Nanopublications LDF server

Matches in Nanopublications for { ?s <http://purl.org/dc/terms/description> ?o ?g. }

• NP1961.RA5spCOWeSHZvArT_Dd5F1jlIx3wA4rvnSIj8hTqCtf28130_assertion description "[Identification of novel EIF2B mutations in Chinese patients with vanishing white matter disease.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP1961.RA5spCOWeSHZvArT_Dd5F1jlIx3wA4rvnSIj8hTqCtf28130_provenance.
• NP1962.RAy8hgKjUBhWQ27DH48AGlUwtT4y_bKJK5pr5UZVtdKKk130_assertion description "[Ovarian failure related to eukaryotic initiation factor 2B mutations.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP1962.RAy8hgKjUBhWQ27DH48AGlUwtT4y_bKJK5pr5UZVtdKKk130_provenance.
• NP1963.RA1uvDhH1kViuouCyPEMLoq0TIPT57QV-xRoeFSl1XmZk130_assertion description "[Cree leukoencephalopathy and CACH/VWM disease are allelic at the EIF2B5 locus.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP1963.RA1uvDhH1kViuouCyPEMLoq0TIPT57QV-xRoeFSl1XmZk130_provenance.
• NP1972.RA55I9azWw6PKsz1Mm5WANpJoj6OU4i596V5TzTjHb7bw130_assertion description "[Expression analysis of four endoglin missense mutations suggests that haploinsufficiency is the predominant mechanism for hereditary hemorrhagic telangiectasia type 1.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP1972.RA55I9azWw6PKsz1Mm5WANpJoj6OU4i596V5TzTjHb7bw130_provenance.
• NP1976.RA6ygXu2gqVHHUHGWP4D7qfk2w9wtvfpEO7yWOhIDoz9w130_assertion description "[We conclude that hepatic manifestation in HHT patients is associated with mutations in the ALK1 gene, but rarely with ENG mutations.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP1976.RA6ygXu2gqVHHUHGWP4D7qfk2w9wtvfpEO7yWOhIDoz9w130_provenance.
• NP1977.RAxxOZ1-8Xy2pMgCrRLRQghW0h53lOOPTllMTZKXNeUmY130_assertion description "[Molecular screening of ALK1/ACVRL1 and ENG genes in hereditary hemorrhagic telangiectasia in France.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP1977.RAxxOZ1-8Xy2pMgCrRLRQghW0h53lOOPTllMTZKXNeUmY130_provenance.
• NP1986.RA56aAWH-CVgR0TLsdMeiogYQUT2zQJBFvshfN-E17qPY130_assertion description "[A gain-of-function mutation in the HIF2A gene in familial erythrocytosis.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP1986.RA56aAWH-CVgR0TLsdMeiogYQUT2zQJBFvshfN-E17qPY130_provenance.
• NP1989.RAya43slcFMvhkDAd3U_9pz4AmknnZK5skm3UN1dgyhJc130_assertion description "[This raises the possibility of HIF2A mutations being associated with other cases of erythrocytosis.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP1989.RAya43slcFMvhkDAd3U_9pz4AmknnZK5skm3UN1dgyhJc130_provenance.
• NP1997.RAzBYbg4OTTDhBcQFcjAee2BJbtuCsvOiytBx9OaAdxQA130_assertion description "[Human cataract mutations in EPHA2 SAM domain alter receptor stability and function.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP1997.RAzBYbg4OTTDhBcQFcjAee2BJbtuCsvOiytBx9OaAdxQA130_provenance.
• NP1999.RAwCRfmUBcKLIlKSszQ5vNTH900e57FQRhRE4p-H4A1SQ130_assertion description "[Taken together with studies indicating that EphB2 may have an essential role in cell migration and maintenance of normal tissue architecture, our findings suggest that mutational inactivation of EPHB2 may be important in the progression and metastasis of prostate cancer.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP1999.RAwCRfmUBcKLIlKSszQ5vNTH900e57FQRhRE4p-H4A1SQ130_provenance.
• NP2000.RAxTNYA50tWzlQVS31S7Xrx2oydyy3SUSllreYD1BOk3k130_assertion description "[Patterns of somatic mutation in human cancer genomes.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP2000.RAxTNYA50tWzlQVS31S7Xrx2oydyy3SUSllreYD1BOk3k130_provenance.
• NP2005.RA2k_PjGNeOcNLDqsNgigtxDpCBSwIBM7C0mArxxoHGqc130_assertion description "[Loss of function of the cytoplasmic isoform of the protein laforin (EPM2A) causes Lafora progressive myoclonus epilepsy.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP2005.RA2k_PjGNeOcNLDqsNgigtxDpCBSwIBM7C0mArxxoHGqc130_provenance.
• NP2021.RA6A4yPONJbEhKnSR8X6XTHeribHQU1nyG-RgZn81r07g130_assertion description "[DNA repair defects in the xeroderma pigmentosum (XP) group D complementation group can be associated with the clinical features of two quite different disorders; XP, a sun-sensitive and cancer-prone disorder, or trichothiodystrophy (TTD) which is characterized by sulphur-deficient brittle hair and a variety of other associated abnormalities, but no skin cancer.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP2021.RA6A4yPONJbEhKnSR8X6XTHeribHQU1nyG-RgZn81r07g130_provenance.
• NP2022.RA8zAyvcn8yg6c8sRWKG9vaiKD6GUoUAjAg0E6Om5lA0A130_assertion description "[]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP2022.RA8zAyvcn8yg6c8sRWKG9vaiKD6GUoUAjAg0E6Om5lA0A130_provenance.
• NP2025.RA4LPmogU5DFW1pc4qr4w9-laSo4tLOLbbZfR-Jx9Gox0130_assertion description "[Cerebro-oculo-facio-skeletal syndrome with a nucleotide excision-repair defect and a mutated XPD gene, with prenatal diagnosis in a triplet pregnancy.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP2025.RA4LPmogU5DFW1pc4qr4w9-laSo4tLOLbbZfR-Jx9Gox0130_provenance.
• NP2028.RAwr8OZUf3Juun_6O3MHfN7kK20rmYgxHFpzVnY2f8VY0130_assertion description "[Homozygous R788W point mutation in the XPF gene of a patient with xeroderma pigmentosum and late-onset neurologic disease.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP2028.RAwr8OZUf3Juun_6O3MHfN7kK20rmYgxHFpzVnY2f8VY0130_provenance.
• NP2032.RA5wqw1NsTU4b7Ph2mMWKt9rduUQoFexYNGqXq3193xH8130_assertion description "[Xeroderma pigmentosum group G with severe neurological involvement and features of Cockayne syndrome in infancy.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP2032.RA5wqw1NsTU4b7Ph2mMWKt9rduUQoFexYNGqXq3193xH8130_provenance.
• NP2035.RAytl_fje3VDgdRdhRKbwM5KG3F4N-JVT_pJs3_6FAVso130_assertion description "[Mutation update for the CSB/ERCC6 and CSA/ERCC8 genes involved in Cockayne syndrome.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP2035.RAytl_fje3VDgdRdhRKbwM5KG3F4N-JVT_pJs3_6FAVso130_provenance.
• NP2037.RA4Akp1J-ijQI505mxmXRcZxE9W4NGMaQxhRJ2NsU1fIY130_assertion description "[We report that a subject with Cockayne syndrome type A (CS3BE) was a compound heterozygote for mutations in CKN1, the gene encoding the CSA protein (MIM 216400).]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP2037.RA4Akp1J-ijQI505mxmXRcZxE9W4NGMaQxhRJ2NsU1fIY130_provenance.
• NP2038.RA5rvWArYsBek_nNghVV82eoHtQPOaDr_MoHqb8KsEasg130_assertion description "[CKN1 (MIM 216400): mutations in Cockayne syndrome type A and a new common polymorphism.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP2038.RA5rvWArYsBek_nNghVV82eoHtQPOaDr_MoHqb8KsEasg130_provenance.
• NP2040.RA-iCNQOV_I4TeR3_QRYXdZTnx3s19LzbxJCFzqlUSA24130_assertion description "[We identified mutations in a new human gene, ESCO2, associated with Roberts syndrome in 15 kindreds.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP2040.RA-iCNQOV_I4TeR3_QRYXdZTnx3s19LzbxJCFzqlUSA24130_provenance.
• NP2041.RA3xrkKsbK68SgUpPMnyfSx-SmablsPKridvnkBGz2tyY130_assertion description "[A recessive mutation in the espin gene (Espn) has been detected in the jerker mouse and causes deafness, vestibular dysfunction, and hair cell degeneration.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP2041.RA3xrkKsbK68SgUpPMnyfSx-SmablsPKridvnkBGz2tyY130_provenance.
• NP2044.RAyz0SLAdURX0AVKZqIByVrZmQ1qMrLwvNHI8H2Nx32BU130_assertion description "[Molecular characterization of variant alpha-subunit of electron transfer flavoprotein in three patients with glutaric acidemia type II--and identification of glycine substitution for valine-157 in the sequence of the precursor, producing an unstable mature protein in a patient.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP2044.RAyz0SLAdURX0AVKZqIByVrZmQ1qMrLwvNHI8H2Nx32BU130_provenance.
• NP2045.RA_hrTdbzocCMQQV7PL3y51Z8pliWTRwzRwtMPkXM-t4k130_assertion description "[Mutations and polymorphisms of the gene encoding the beta-subunit of the electron transfer flavoprotein in three patients with glutaric acidemia type II.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP2045.RA_hrTdbzocCMQQV7PL3y51Z8pliWTRwzRwtMPkXM-t4k130_provenance.
• NP2049.RAzj6qVVaGdFIsLWuyZId4JDOWAWBdMWoWGNhDHkTR1TI130_assertion description "[Mutations in two nonhomologous genes in a head-to-head configuration cause Ellis-van Creveld syndrome.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP2049.RAzj6qVVaGdFIsLWuyZId4JDOWAWBdMWoWGNhDHkTR1TI130_provenance.
• NP2051.RA_dXXa_hylFQBf7WqQsOU15_kqTi2S0RNvht_WZDif9I130_assertion description "[Mutations in a new gene in Ellis-van Creveld syndrome and Weyers acrodental dysostosis.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP2051.RA_dXXa_hylFQBf7WqQsOU15_kqTi2S0RNvht_WZDif9I130_provenance.
• NP2052.RA2dMyeEQBBL_JmEFQoaU0HXaFTXFifxIdH4EY1_JtjXM130_assertion description "[Mutations in a new gene in Ellis-van Creveld syndrome and Weyers acrodental dysostosis.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP2052.RA2dMyeEQBBL_JmEFQoaU0HXaFTXFifxIdH4EY1_JtjXM130_provenance.
• NP2056.RA_qebLzmaYs-26Nw0jPxLTE-xwx8yWBVlof2oet-L8Jc130_assertion description "[Mutation screening of the EXT1 and EXT2 genes in patients with hereditary multiple exostoses.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP2056.RA_qebLzmaYs-26Nw0jPxLTE-xwx8yWBVlof2oet-L8Jc130_provenance.
• NP2062.RA9pwIwirT6uLz8F331XZkPn_FnHqaK441YeEc9Zt1-Wk130_assertion description "[EXT-mutation analysis and loss of heterozygosity in sporadic and hereditary osteochondromas and secondary chondrosarcomas.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP2062.RA9pwIwirT6uLz8F331XZkPn_FnHqaK441YeEc9Zt1-Wk130_provenance.
• NP2065.RA07vcI9b645dAUYfypExnHcAC71-S8YThkpHcflFT3zQ130_assertion description "[Mutation analysis of hereditary multiple exostoses in the Chinese.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP2065.RA07vcI9b645dAUYfypExnHcAC71-S8YThkpHcflFT3zQ130_provenance.
• NP2081.RA1sPrgaN-bsp5yhR98s5azec0UmrZgUpSC_EfbOxYh7g130_assertion description "[Genetic analysis of hereditary factor X deficiency in a French patient of Sri Lankan ancestry: in vitro expression study identified Gly366Ser substitution as the molecular basis of the dysfunctional factor X.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP2081.RA1sPrgaN-bsp5yhR98s5azec0UmrZgUpSC_EfbOxYh7g130_provenance.
• NP2086.RAxozsPgRSfXvOR6jSQQ7u941LXC_qR_AmkJQJnjmj1Bg130_assertion description "[A family with hereditary factor X deficiency with a point mutation Gla32 to Gln in the Gla domain (factor X Tokyo).]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP2086.RAxozsPgRSfXvOR6jSQQ7u941LXC_qR_AmkJQJnjmj1Bg130_provenance.
• NP2094.RA-vx4vvdEJkIUdt4pptpUMri9GYYZWdLjoGKDn8c8cwc130_assertion description "[Three dominant-negative mutations in factor XI-deficient patients.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP2094.RA-vx4vvdEJkIUdt4pptpUMri9GYYZWdLjoGKDn8c8cwc130_provenance.
• NP2101.RA6rPprFwCID_J2vS3SyY9zRKRK1G2QGVtElc3PusQp-U130_assertion description "[Factor XII Shizuoka, a novel mutation (Ala392Thr) identified and characterized in a patient with congenital coagulation factor XII deficiency.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP2101.RA6rPprFwCID_J2vS3SyY9zRKRK1G2QGVtElc3PusQp-U130_provenance.
• NP2113.RAzLpSwc4SrLbIsKtlnsILle4Jg06rjm-NU1q87O5QZ6A130_assertion description "[Detection of a single base substitution of the gene for prothrombin Tokushima. The application of PCR-SSCP for the genetic and molecular analysis of dysprothrombinemia.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP2113.RAzLpSwc4SrLbIsKtlnsILle4Jg06rjm-NU1q87O5QZ6A130_provenance.
• NP2116.RAx7Fon7UrZqDEi6cHu2ICNzN7yInurBN-6hVdoQZHxSs130_assertion description "[Prothrombin Shanghai: hypoprothrombinaemia caused by substitution of Gla29 by Gly.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP2116.RAx7Fon7UrZqDEi6cHu2ICNzN7yInurBN-6hVdoQZHxSs130_provenance.
• NP2125.RA1F9p36XXBG3an-uy_kFz8h-Tfn7uzOSMyorxFZOJO74130_assertion description "[Familial factor VII deficiency with foetal and neonatal fatal cerebral haemorrhage associated with homozygosis to Gly180Arg mutation.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP2125.RA1F9p36XXBG3an-uy_kFz8h-Tfn7uzOSMyorxFZOJO74130_provenance.
• NP2127.RAzZFwzmF6_u7BLgT67MPdYsxneBnAh4pG6jQMJCK0eHo130_assertion description "[Factor VII deficiency: clinical manifestation of 717 subjects from Europe and Latin America with mutations in the factor 7 gene.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP2127.RAzZFwzmF6_u7BLgT67MPdYsxneBnAh4pG6jQMJCK0eHo130_provenance.
• NP2131.RAzzu7VrvysWSZLrhxoL-LzqvSVzE0hHlgC_CeG0rvjVs130_assertion description "[Factor VII Morioka (FVII L-26P): a homozygous missense mutation in the signal sequence identified in a patient with factor VII deficiency.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP2131.RAzzu7VrvysWSZLrhxoL-LzqvSVzE0hHlgC_CeG0rvjVs130_provenance.
• NP2132.RA95U4L4SjQHbPSvCtv1ffAHh0kkMJFnE4o691AIBBCfQ130_assertion description "[Factor VII deficiency caused by a structural variant N57D of the first epidermal growth factor domain.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP2132.RA95U4L4SjQHbPSvCtv1ffAHh0kkMJFnE4o691AIBBCfQ130_provenance.
• NP2134.RA5r5SjIKkonwyyv0uUiN6stTsudOdFqR-3pWhuuopoF8130_assertion description "[Identification of 31 novel mutations in the F8 gene in Spanish hemophilia A patients: structural analysis of 20 missense mutations suggests new intermolecular binding sites.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP2134.RA5r5SjIKkonwyyv0uUiN6stTsudOdFqR-3pWhuuopoF8130_provenance.
• NP2135.RA8k9fDHKJgjqvNmGZ8gZQp_AxIdOY8zFSDB0v_TJX4iE130_assertion description "[Hemophilia A (HA) is an X-chromosome-linked recessive disorder.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP2135.RA8k9fDHKJgjqvNmGZ8gZQp_AxIdOY8zFSDB0v_TJX4iE130_provenance.
• NP2141.RA7iMpoj9uPhYgvVSpUCX7-MH-QOAhoguY-5p9irCbV14130_assertion description "[Our objective was to identify defects in the gene of FVIII by a sensitive and simple scanning technique with high throughput in order to study molecular mechanisms by which novel amino acid substitutions may lead to hemophilia A.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP2141.RA7iMpoj9uPhYgvVSpUCX7-MH-QOAhoguY-5p9irCbV14130_provenance.
• NP2148.RA_Q6AWnTHwCdfJmD7aC4SNgTTW_EFrKvyM2PRrSYJThg130_assertion description "[Germline mutations in Peruvian patients with hemophilia B: pattern of mutation in AmerIndians is similar to the putative endogenous germline pattern.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP2148.RA_Q6AWnTHwCdfJmD7aC4SNgTTW_EFrKvyM2PRrSYJThg130_provenance.
• NP2150.RA85zZJJ0q870P7pZnYP8Uf_tJJqgQblLSNW6O4zxntfs130_assertion description "[In the present study, we report the application of polymerase chain reaction-single-strand conformation polymorphism (PCR-SSCP) analysis to the screening of seven functionally important factor IX gene (FIX) regions (total length 2.66 kb) in 9 unrelated haemophilia B patients of Portuguese or African origin.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP2150.RA85zZJJ0q870P7pZnYP8Uf_tJJqgQblLSNW6O4zxntfs130_provenance.
• NP2151.RA_NsL0ERt_NnQXbWz5MzTG8hkYpvzQDzLhBqug9DGNaM130_assertion description "[A novel mutation (Val-373 to Glu) in the catalytic domain of factor IX, resulting in moderately/severe hemophilia B in a southern French patient.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP2151.RA_NsL0ERt_NnQXbWz5MzTG8hkYpvzQDzLhBqug9DGNaM130_provenance.
• NP2165.RA0WtW8j7udPtQv0BjqSXWERDpUJynu7oK1XqBO1MDzRg130_assertion description "[A novel mutation causing mild, atypical fumarylacetoacetase deficiency (Tyrosinemia type I): a case report.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP2165.RA0WtW8j7udPtQv0BjqSXWERDpUJynu7oK1XqBO1MDzRg130_provenance.
• NP2169.RAxhvD--9sdJc5kVwIhufieKsv-mWtSETiYcxaBPn-xk4130_assertion description "[Mutations in FAM20C are associated with lethal osteosclerotic bone dysplasia (Raine syndrome), highlighting a crucial molecule in bone development.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP2169.RAxhvD--9sdJc5kVwIhufieKsv-mWtSETiYcxaBPn-xk4130_provenance.
• NP2177.RA-b2p8-5JCUNRdWQ27v_fjYXAG7LQP9c5R1C8NH-9WDI130_assertion description "[According to our study, the four mutations account for the majority (88%) of the FANCA alleles in the Israeli Jewish (non-Ashkenazi) FA population.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP2177.RA-b2p8-5JCUNRdWQ27v_fjYXAG7LQP9c5R1C8NH-9WDI130_provenance.
• NP2178.RA_A556SCSNB4tgD_zykj9Gblg4fuaHWgQtHynuPvVSUY130_assertion description "[]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP2178.RA_A556SCSNB4tgD_zykj9Gblg4fuaHWgQtHynuPvVSUY130_provenance.
• NP2190.RA4TlNcHvRcLEjcz-Kf4kroIf7UodvbNijnSaa9GuEUvk130_assertion description "[Homozygous missense mutation in fibulin-5 in an Iranian autosomal recessive cutis laxa pedigree and associated haplotype.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP2190.RA4TlNcHvRcLEjcz-Kf4kroIf7UodvbNijnSaa9GuEUvk130_provenance.
• NP2192.RAwWfPkzsqWe3aZItgWZoq0sX2cx000aZ5_aDnJ6bG6Mw130_assertion description "[Central nervous system abnormalities in two cases with neonatal Marfan syndrome with novel mutations in the fibrillin-1 gene.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP2192.RAwWfPkzsqWe3aZItgWZoq0sX2cx000aZ5_aDnJ6bG6Mw130_provenance.
• NP2193.RA0M83W__FxfmfSSd07_WPdWgSH-PcUIrMTSccyqNOEOQ130_assertion description "[Identification of 29 novel and nine recurrent fibrillin-1 (FBN1) mutations and genotype-phenotype correlations in 76 patients with Marfan syndrome.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP2193.RA0M83W__FxfmfSSd07_WPdWgSH-PcUIrMTSccyqNOEOQ130_provenance.
• NP2198.RA9bcsYxNm5r1lB8CudTsxavBVd4HZQsDsvl2cgMsXeYs130_assertion description "[TGGE screening of the entire FBN1 coding sequence in 126 individuals with marfan syndrome and related fibrillinopathies.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP2198.RA9bcsYxNm5r1lB8CudTsxavBVd4HZQsDsvl2cgMsXeYs130_provenance.
• NP2201.RA5Kx06WRtXPujTtRIH-wzjl1VRzF1qGfvLzWs42Tg_3w130_assertion description "[A novel mutation in the neonatal region of the fibrillin (FBN)1 gene associated with a classical phenotype of Marfan syndrome (MfS). Mutations in brief no. 163. Online.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP2201.RA5Kx06WRtXPujTtRIH-wzjl1VRzF1qGfvLzWs42Tg_3w130_provenance.
• NP2204.RA1qcBrdM7tGDhZYiHePfQmWdvessqsFgnqJgoFQplen8130_assertion description "[TGGE screening of the entire FBN1 coding sequence in 126 individuals with marfan syndrome and related fibrillinopathies.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP2204.RA1qcBrdM7tGDhZYiHePfQmWdvessqsFgnqJgoFQplen8130_provenance.
• NP2210.RA29S-Mlb_W56mU50_M8oZEHpVhIp-HiKF8jytNMgDJJw130_assertion description "[These studies have implications for our understanding of the molecular basis of CCA, along with the diagnosis and genetic counseling of CCA patients.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP2210.RA29S-Mlb_W56mU50_M8oZEHpVhIp-HiKF8jytNMgDJJw130_provenance.
• NP2212.RA186s_r_xCJMPgLzvBBVtnlMiySiz43ak_Y0-CpuTBVQ130_assertion description "[]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP2212.RA186s_r_xCJMPgLzvBBVtnlMiySiz43ak_Y0-CpuTBVQ130_provenance.
• NP2217.RAzvkKZGyr97xQmUXjRqzDsVsCoQmaNMdd0ySK8yZmFEg130_assertion description "[Erythropoietic protoporphyria (EPP) is an inherited disorder, caused by a partial deficiency of ferrochelatase (FECH), the last enzyme of the heme biosynthetic pathway.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP2217.RAzvkKZGyr97xQmUXjRqzDsVsCoQmaNMdd0ySK8yZmFEg130_provenance.
• NP2222.RA9vQ8cX7oR_sX4GmdTpc5-X70ERLrjboodJcJEGOibck130_assertion description "[Erythropoietic protoporphyria (EPP; MIM 177000) is an inherited disorder caused by partial deficiency of ferrochelatase (FECH), the last enzyme in the heme biosynthetic pathway.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP2222.RA9vQ8cX7oR_sX4GmdTpc5-X70ERLrjboodJcJEGOibck130_provenance.
• NP2229.RA0iaq1TRqC7BQDU0SFLsQDMkBaDVr6_gKLjkJu_Lmy9A130_assertion description "[The impaired polymerization of fibrinogen Longmont (Bbeta166Arg-->Cys) is not improved by removal of disulfide-linked dimers from a mixture of dimers and cysteine-linked monomers.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP2229.RA0iaq1TRqC7BQDU0SFLsQDMkBaDVr6_gKLjkJu_Lmy9A130_provenance.
• NP2234.RA6QzyhtwUBCty9CdER9iPiY6y91RgwmoOiEDFcSKJcuQ130_assertion description "[Mutations in FGD4 encoding the Rho GDP/GTP exchange factor FRABIN cause autosomal recessive Charcot-Marie-Tooth type 4H.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP2234.RA6QzyhtwUBCty9CdER9iPiY6y91RgwmoOiEDFcSKJcuQ130_provenance.
• NP2235.RA4HX4sOgXu6YytHPDU8-KDXiYoJ93EuE8w1nWeLZ_vJ4130_assertion description "[We identified heterozygous mutations in the tyrosine kinase domains of the genes encoding fibroblast growth factor receptors 2 and 3 (FGFR2, FGFR3) in LADD families, and in one further LADD family, we detected a mutation in the gene encoding fibroblast growth factor 10 (FGF10), a known FGFR ligand.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP2235.RA4HX4sOgXu6YytHPDU8-KDXiYoJ93EuE8w1nWeLZ_vJ4130_provenance.
• NP2236.RA8gJYU1ISxEbZ6SHwyflgo_MDY0LIzevtqAs6dIRiVK4130_assertion description "[A nonsense mutation was also found in exon 2 of FGF10 (Family 2) in a 19-year-old mother with ALSG and her 2-year-old daughter with LADD syndrome.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP2236.RA8gJYU1ISxEbZ6SHwyflgo_MDY0LIzevtqAs6dIRiVK4130_provenance.
• NP2240.RA-OwlEs_otiektSgzPlk7SXoAuCU05mfFGheTpBYF1Ck130_assertion description "[An FGF23 missense mutation causes familial tumoral calcinosis with hyperphosphatemia.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP2240.RA-OwlEs_otiektSgzPlk7SXoAuCU05mfFGheTpBYF1Ck130_provenance.
• NP2252.RA9Pa5IrXyjLm0mlzaeUScyU5eMsaIT0mM4-etv3lmffo130_assertion description "[Mutations in fibroblast growth factor receptor 1 cause Kallmann syndrome with a wide spectrum of reproductive phenotypes.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP2252.RA9Pa5IrXyjLm0mlzaeUScyU5eMsaIT0mM4-etv3lmffo130_provenance.
• NP2256.RA3yZgkdr1p34-uQHEo-NG0RyPX7Ucdoc-AOWcI2P7rL8130_assertion description "[Gonadotrophin therapy in Kallmann syndrome caused by heterozygous mutations of the gene for fibroblast growth factor receptor 1: report of three families: case report.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP2256.RA3yZgkdr1p34-uQHEo-NG0RyPX7Ucdoc-AOWcI2P7rL8130_provenance.
• NP2277.RA5glo3HsgrWNRevhgscTEJOMvITgmWJDESyco-_IXtHI130_assertion description "[Clustering of FGFR2 gene mutations inpatients with Pfeiffer and Crouzon syndromes (FGFR2-associated craniosynostoses).]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP2277.RA5glo3HsgrWNRevhgscTEJOMvITgmWJDESyco-_IXtHI130_provenance.
• NP2300.RAzwa8MchflOx7NRIkf1IUB3gFFJDi3ApEyb_qmNLMKwY130_assertion description "[A glycine 375-to-cysteine substitution in the transmembrane domain of the fibroblast growth factor receptor-3 in a newborn with achondroplasia.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP2300.RAzwa8MchflOx7NRIkf1IUB3gFFJDi3ApEyb_qmNLMKwY130_provenance.
• NP2303.RA7cWPtRDIPHLHjJU_bY3r8edOv4GtgRSsV2zW3N5mvrs130_assertion description "[The molecular abnormality associated with Crouzon syndrome with acanthosis nigricans (CAN) is a transition in the transmembrane domain of the FGFR3 gene that results in an Ala391Glu mutation.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP2303.RA7cWPtRDIPHLHjJU_bY3r8edOv4GtgRSsV2zW3N5mvrs130_provenance.
• NP2304.RAwOe21vDtGy8AhD7bqV7PJjm-dcwPbWe_2BY8p5mAorY130_assertion description "[A novel missense mutation Ile538Val in the fibroblast growth factor receptor 3 in hypochondroplasia. Mutations in brief no. 122. Online.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP2304.RAwOe21vDtGy8AhD7bqV7PJjm-dcwPbWe_2BY8p5mAorY130_provenance.
• NP2308.RAwnaPQsJTZL7Kztl0b5k4fWIcj55Uhs4n5fZenhvHKV0130_assertion description "[Loss of heterozygosity at 4p16.3 and mutation of FGFR3 in transitional cell carcinoma.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP2308.RAwnaPQsJTZL7Kztl0b5k4fWIcj55Uhs4n5fZenhvHKV0130_provenance.
• NP2311.RA3Tadf4VOZcMmMv_q1NDhp5cMNaybjUQhn_c893AYMrI130_assertion description "[A novel mutation in FGFR3 causes camptodactyly, tall stature, and hearing loss (CATSHL) syndrome.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP2311.RA3Tadf4VOZcMmMv_q1NDhp5cMNaybjUQhn_c893AYMrI130_provenance.
• NP2312.RA1_p8GGoEu2JsdrjTVlNzKm3RAFabOQF40GT-t2gUeoU130_assertion description "[We identified heterozygous mutations in the tyrosine kinase domains of the genes encoding fibroblast growth factor receptors 2 and 3 (FGFR2, FGFR3) in LADD families, and in one further LADD family, we detected a mutation in the gene encoding fibroblast growth factor 10 (FGF10), a known FGFR ligand.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP2312.RA1_p8GGoEu2JsdrjTVlNzKm3RAFabOQF40GT-t2gUeoU130_provenance.
• NP2318.RA0MwRcE40RE7B5t5v379NCOeZPInxHwbv-YI_tyIVsuw130_assertion description "[Germline mutations in FH predispose to dominantly inherited uterine fibroids, skin leiomyomata and papillary renal cell cancer.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP2318.RA0MwRcE40RE7B5t5v379NCOeZPInxHwbv-YI_tyIVsuw130_provenance.
• NP2326.RAyYKZo82f3k-x2TkPu4hyrU0cDxlaYqtiRmimgvL8L98130_assertion description "[Mutations in the fukutin-related protein gene (FKRP) cause a form of congenital muscular dystrophy with secondary laminin alpha2 deficiency and abnormal glycosylation of alpha-dystroglycan.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP2326.RAyYKZo82f3k-x2TkPu4hyrU0cDxlaYqtiRmimgvL8L98130_provenance.
• NP2327.RA8DRC6kf2uVKJ9Mo-yo7UbmlCeeFyXhBY1uY_Jcj5dIk130_assertion description "[The fukutin-related protein gene (FKRP) is mutated in a severe form of CMD (MDC1C) and a milder limb girdle dystrophy (LGMD2I).]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP2327.RA8DRC6kf2uVKJ9Mo-yo7UbmlCeeFyXhBY1uY_Jcj5dIk130_provenance.
• NP2329.RAxAxIYj9slbYW2_ej0-kwsjb7FxW1gIErhRDhxMvscI0130_assertion description "[Mutations in the fukutin-related protein gene (FKRP) identify limb girdle muscular dystrophy 2I as a milder allelic variant of congenital muscular dystrophy MDC1C.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP2329.RAxAxIYj9slbYW2_ej0-kwsjb7FxW1gIErhRDhxMvscI0130_provenance.
• NP2330.RAxk-Hq--z7Z7auW6sY-eWMTnvaXqHmcBxl4hZK7yZG9s130_assertion description "[FKRP mutations account for a broad spectrum of patients with muscular dystrophy, from a severe congenital form with or without mental retardation (MDC1C) to a much milder limb-girdle muscular dystrophy (LGMD2I).]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP2330.RAxk-Hq--z7Z7auW6sY-eWMTnvaXqHmcBxl4hZK7yZG9s130_provenance.
• NP2338.RA1RENSjQnjK606oappFGhfA1vd0bpp30iUACvoHLYyG8130_assertion description "[Further evidence of Fukutin mutations as a cause of childhood onset limb-girdle muscular dystrophy without mental retardation.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP2338.RA1RENSjQnjK606oappFGhfA1vd0bpp30iUACvoHLYyG8130_provenance.
• NP2341.RAxacsi01OCOiM7DZXDOhECVSo1cwdNabS68Aj6sBu5jU130_assertion description "[Novel mutations in the folliculin gene associated with spontaneous pneumothorax.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP2341.RAxacsi01OCOiM7DZXDOhECVSo1cwdNabS68Aj6sBu5jU130_provenance.
• NP2347.RAzmkUCemIGvQNvnI_hdvhbk0BfitnbEUPSdNXRpxWqsY130_assertion description "[Germline and mosaic mutations of FLN1 in men with periventricular heterotopia.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP2347.RAzmkUCemIGvQNvnI_hdvhbk0BfitnbEUPSdNXRpxWqsY130_provenance.
• NP2348.RAwpGb0eEpvIT4lERLEVcuSmhXRXxEeyLns_YK8eBkKDc130_assertion description "[Bilateral periventricular nodular heterotopia due to filamin 1 gene mutation: widespread glomeruloid microvascular anomaly and dysplastic cytoarchitecture in the cerebral cortex.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP2348.RAwpGb0eEpvIT4lERLEVcuSmhXRXxEeyLns_YK8eBkKDc130_provenance.
• NP2354.RAxpq49UgMwiVOVyAYjeuL4AS4ghFVZLzIHtaxDwLceFU130_assertion description "[Genotype-epigenotype-phenotype correlations in females with frontometaphyseal dysplasia.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP2354.RAxpq49UgMwiVOVyAYjeuL4AS4ghFVZLzIHtaxDwLceFU130_provenance.
• NP2357.RA7cn2olmo8FDOMi1pNLJnyaNeuAMzKQgA8kzyA0OLRF8130_assertion description "[Ehlers-Danlos syndrome and periventricular nodular heterotopia in a Spanish family with a single FLNA mutation.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP2357.RA7cn2olmo8FDOMi1pNLJnyaNeuAMzKQgA8kzyA0OLRF8130_provenance.
• NP2358.RA0J1an5yZww4YkJz1FCP4_qkHRyZ4oXi2C0Er-FyWluo130_assertion description "[Given that one putative FG locus (FGS2) is situated at Xq28, which is the location of the Filamin A gene (FLNA), and that a Filamin A mutation was reported in a boy with facial dysmorphism and constipation, it was hypothesized that Filamin A mutations could be one cause of FG syndrome.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP2358.RA0J1an5yZww4YkJz1FCP4_qkHRyZ4oXi2C0Er-FyWluo130_provenance.
• NP2362.RA5800xvLm034MgJGoco5kmVTbW7pLeC80WdZKhY_rjZA130_assertion description "[We found homozygosity or compound heterozygosity with respect to stop-codon mutations in autosomal recessive spondylocarpotarsal syndrome (SCT, OMIM 272460) and missense mutations in individuals with autosomal dominant Larsen syndrome (OMIM 150250) and the perinatal lethal atelosteogenesis I and III phenotypes (AOI, OMIM 108720; AOIII, OMIM 108721).]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP2362.RA5800xvLm034MgJGoco5kmVTbW7pLeC80WdZKhY_rjZA130_provenance.
• NP2364.RA4sV8okOefMZyrta_SZMwz9EoBaLgO2r6l1tkvabBodA130_assertion description "[Mutations in the N-terminal actin-binding domain of filamin C cause a distal myopathy.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP2364.RA4sV8okOefMZyrta_SZMwz9EoBaLgO2r6l1tkvabBodA130_provenance.
• NP2366.RA0AFaTX8dxc9_qirCylNOtonQLaN93i2MeGjCKo_Mhc4130_assertion description "[Congenital hereditary lymphedema caused by a mutation that inactivates VEGFR3 tyrosine kinase.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP2366.RA0AFaTX8dxc9_qirCylNOtonQLaN93i2MeGjCKo_Mhc4130_provenance.
• NP2369.RA9Rh-gS37Nxz3pRWRiCJIrTcIpyu0XJ4tX3qXCJd_N18130_assertion description "[Posterior column ataxia with retinitis pigmentosa in a Japanese family with a novel mutation in FLVCR1.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP2369.RA9Rh-gS37Nxz3pRWRiCJIrTcIpyu0XJ4tX3qXCJd_N18130_provenance.
• NP2371.RAz-pBd8Ze31ZRM5bOwKqEI1dOiMVV1pa6rXg1YJKpay8130_assertion description "[High-throughput sequencing of a 4.1Mb linkage interval reveals FLVCR2 deletions and mutations in lethal cerebral vasculopathy.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP2371.RAz-pBd8Ze31ZRM5bOwKqEI1dOiMVV1pa6rXg1YJKpay8130_provenance.
• NP2372.RAwkWoTuf8RPXHKvFjTnVb8_s1HoVzymNnLUaTLbOrQ08130_assertion description "[Unexpected allelic heterogeneity and spectrum of mutations in Fowler syndrome revealed by next-generation exome sequencing.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP2372.RAwkWoTuf8RPXHKvFjTnVb8_s1HoVzymNnLUaTLbOrQ08130_provenance.
• NP2377.RA3QNg1lK-tC7olTOtoFTWVOeHgqZFIWO026CuBQu6CZA130_assertion description "[We propose a contribution of Tdrd3 to FMRP-mediated translational repression and suggest that the loss of the FMRP-Tdrd3 interaction caused by the I304N mutation might contribute to the pathogenesis of Fragile X syndrome.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP2377.RA3QNg1lK-tC7olTOtoFTWVOeHgqZFIWO026CuBQu6CZA130_provenance.
• NP2390.RA1aY_P6PiTrjkLZ4YGVW0Y3flzV8JXd1uqrL2jdHoKx8130_assertion description "[The analysis of the FOXL2 gene (3q23) in a series of two families and two sporadic cases affected with Blepharophimosis-Ptosis-Epicanthus Inversus Syndrome (BPES) is presented.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP2390.RA1aY_P6PiTrjkLZ4YGVW0Y3flzV8JXd1uqrL2jdHoKx8130_provenance.
• NP2391.RA40UbafXvk0Nxw6o7ICP_H3KmwFqDIuMZUJ1Eke7dr9Q130_assertion description "[Mutations of the FOXL2 gene have been shown to cause blepharophimosis syndrome (BPES), characterized by an eyelid malformation associated with premature ovarian failure or not.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP2391.RA40UbafXvk0Nxw6o7ICP_H3KmwFqDIuMZUJ1Eke7dr9Q130_provenance.
• NP2393.RA5bJcPBvZjZp59lf3E8Xwc5VpH5hxfwxs1hkaE_U7oVc130_assertion description "[]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP2393.RA5bJcPBvZjZp59lf3E8Xwc5VpH5hxfwxs1hkaE_U7oVc130_provenance.
• NP2397.RA4h7MjTcq1Ftk59QT9UNLBoxI0EGvdKG--NWWI_pIWGw130_assertion description "[To determine whether human X-linked neonatal diabetes mellitus, enteropathy and endocrinopathy syndrome (IPEX; MIM 304930) is the genetic equivalent of the scurfy (sf) mouse, we sequenced the human ortholog (FOXP3) of the gene mutated in scurfy mice (Foxp3), in IPEX patients.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP2397.RA4h7MjTcq1Ftk59QT9UNLBoxI0EGvdKG--NWWI_pIWGw130_provenance.
• NP2402.RAxS4KBFs0PGwRh-olelzGKPlLfoSHQCglyl8Pfu1TKFg130_assertion description "[Manitoba-oculo-tricho-anal (MOTA) syndrome is caused by mutations in FREM1.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP2402.RAxS4KBFs0PGwRh-olelzGKPlLfoSHQCglyl8Pfu1TKFg130_provenance.
• NP2406.RA-Q940o0xITtYpG8PEYBFM3AY4gpVJlrp15PR5BUo_yY130_assertion description "[FRMD7 mutations in Chinese families with X-linked congenital motor nystagmus.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP2406.RA-Q940o0xITtYpG8PEYBFM3AY4gpVJlrp15PR5BUo_yY130_provenance.
• NP2410.RA3S4MjnkKT8Ww1ssQ7hbYVTUFVCAl8fSaIf15TGhnTgk130_assertion description "[Novel mutations of the FRMD7 gene in X-linked congenital motor nystagmus.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP2410.RA3S4MjnkKT8Ww1ssQ7hbYVTUFVCAl8fSaIf15TGhnTgk130_provenance.

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