Nanopublications LDF server

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

• NP4433.RAbVm3W-QupaD6y2A2asbYewIFd4ApQRgike9eXBNsa2M130_assertion description "[A new variant of Charcot-Marie-Tooth disease type 2 is probably the result of a mutation in the neurofilament-light gene.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP4433.RAbVm3W-QupaD6y2A2asbYewIFd4ApQRgike9eXBNsa2M130_provenance.
• NP4435.RAcDEIdI2qojWgLmE8DtUAGyo7BtYZr1VxSt8DfeN5TYo130_assertion description "[Mutational analysis of PMP22, MPZ, GJB1, EGR2 and NEFL in Korean Charcot-Marie-Tooth neuropathy patients.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP4435.RAcDEIdI2qojWgLmE8DtUAGyo7BtYZr1VxSt8DfeN5TYo130_provenance.
• NP4443.RAahAZegbW_39fAQXpBbkJNSXqw-ySwnPq2MBN-nsXVDs130_assertion description "[One patient with a severe, congenital form of type 2 sialidosis was a compound heterozygote for 239C-to-T (P80L) and 718T-to-C (W240R).]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP4443.RAahAZegbW_39fAQXpBbkJNSXqw-ySwnPq2MBN-nsXVDs130_provenance.
• NP4451.RAQRFQr3ys-TrDbUCvDt7PgfVFRMWfDklV7Ip1BBgTVDE130_assertion description "[We studied a female patient with typical findings of NFNS and found two mutations: a novel PTPN11 transversion, 1909A --> G, resulting in Gln510Arg, and an NF1 transversion, 2531A --> G, resulting in Leu844Arg.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP4451.RAQRFQr3ys-TrDbUCvDt7PgfVFRMWfDklV7Ip1BBgTVDE130_provenance.
• NP4452.RAS7zdnCV9R1iaZA26SnaKQukBLrcZl5WWMthiG7cPyV8130_assertion description "[Disruption of exonic splicing enhancer elements is the principal cause of exon skipping associated with seven nonsense or missense alleles of NF1.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP4452.RAS7zdnCV9R1iaZA26SnaKQukBLrcZl5WWMthiG7cPyV8130_provenance.
• NP4454.RAaZ2K3kO8xqhoziwuuKsjeeRw8G2O7OQNeVtbx4Kh69I130_assertion description "[Automated comparative sequence analysis identifies mutations in 89% of NF1 patients and confirms a mutation cluster in exons 11-17 distinct from the GAP related domain.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP4454.RAaZ2K3kO8xqhoziwuuKsjeeRw8G2O7OQNeVtbx4Kh69I130_provenance.
• NP4455.RAYwzPO-Yt2sH9s2y1CCQhvtWQzDJcOrduSHFZOTC9gAE130_assertion description "[Novel and recurrent mutations in the NF1 gene in Italian patients with neurofibromatosis type 1.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP4455.RAYwzPO-Yt2sH9s2y1CCQhvtWQzDJcOrduSHFZOTC9gAE130_provenance.
• NP4461.RATlqeTOfQbkW-V-Kuot_xTtWSPCOvsXoXrepUFF2whn0130_assertion description "[Spinal neurofibromatosis without caf-au-lait macules in two families with null mutations of the NF1 gene.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP4461.RATlqeTOfQbkW-V-Kuot_xTtWSPCOvsXoXrepUFF2whn0130_provenance.
• NP4469.RAc4LK5sHP2tbVKtB1eIJvyiNyEiUDsAQ4hggvOWCA5nw130_assertion description "[Mutational spectrum in the neurofibromatosis type 2 gene in sporadic and familial schwannomas.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP4469.RAc4LK5sHP2tbVKtB1eIJvyiNyEiUDsAQ4hggvOWCA5nw130_provenance.
• NP4471.RAX0tTM54e7nWwXW48cDgC1Pdf8tUpfxFctAOtIlPCkVI130_assertion description "[A hypermorphic IkappaBalpha mutation is associated with autosomal dominant anhidrotic ectodermal dysplasia and T cell immunodeficiency.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP4471.RAX0tTM54e7nWwXW48cDgC1Pdf8tUpfxFctAOtIlPCkVI130_provenance.
• NP4472.RAa5YitYpxrUCv47iL2_XScwKqPmNlcnG6Pc2KIef1BUE130_assertion description "[A fatal mitochondrial disease is associated with defective NFU1 function in the maturation of a subset of mitochondrial Fe-S proteins.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP4472.RAa5YitYpxrUCv47iL2_XScwKqPmNlcnG6Pc2KIef1BUE130_provenance.
• NP4476.RAYKKkquQJn5xDjZF7-JgN9FDp-KpFyG8Z5TXgU1X-MLE130_assertion description "[Mutations in NHLRC1 cause progressive myoclonus epilepsy.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP4476.RAYKKkquQJn5xDjZF7-JgN9FDp-KpFyG8Z5TXgU1X-MLE130_provenance.
• NP4477.RAVVDGXPvLIyAE5GPrJAm7Mlm-ZB300PBJiN1-OrK_sgU130_assertion description "[Insights into Lafora disease: malin is an E3 ubiquitin ligase that ubiquitinates and promotes the degradation of laforin.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP4477.RAVVDGXPvLIyAE5GPrJAm7Mlm-ZB300PBJiN1-OrK_sgU130_provenance.
• NP4479.RAVqNuWbRQCsLRelffyPTQn83qXZwfzLBTLM8bE_9bn9Q130_assertion description "[The lack of mutations in EPM2A and EPM2B in two families could be because of the presence of mutations in noncoding, nontested regions or the existence of an additional gene associated with Lafora disease.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP4479.RAVqNuWbRQCsLRelffyPTQn83qXZwfzLBTLM8bE_9bn9Q130_provenance.
• NP4481.RAWv227H5OjF6r9wUbq1A3EpUNGMiA47bpRnn6ZmllMoQ130_assertion description "[Mutations in the telomerase component NHP2 cause the premature ageing syndrome dyskeratosis congenita.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP4481.RAWv227H5OjF6r9wUbq1A3EpUNGMiA47bpRnn6ZmllMoQ130_provenance.
• NP4483.RAfKthkoVVWnfWxPiraAB2c2eZMOvnD52EPYqL3COcrS8130_assertion description "[Following the identification of the SPG6 gene, NIPA1, we have identified two novel mutations, c.316G>C and c.316G>A, in two independent Chinese families linked to the SPG6 locus.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP4483.RAfKthkoVVWnfWxPiraAB2c2eZMOvnD52EPYqL3COcrS8130_provenance.
• NP4484.RAWiRDc3XGKdyUg-DNy2eXoAP8zQ9K7ZAAuyeUmWnNeSM130_assertion description "[Mutations in ichthyin a new gene on chromosome 5q33 in a new form of autosomal recessive congenital ichthyosis.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP4484.RAWiRDc3XGKdyUg-DNy2eXoAP8zQ9K7ZAAuyeUmWnNeSM130_provenance.
• NP4490.RAZ0S5ubJxcUbK8k4n3YsxJlJBGSeTTYQyOoBDBiVez8I130_assertion description "[Choreoathetosis, hypothyroidism, and pulmonary alterations due to human NKX2-1 haploinsufficiency.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP4490.RAZ0S5ubJxcUbK8k4n3YsxJlJBGSeTTYQyOoBDBiVez8I130_provenance.
• NP4497.RATZ3Ncgq_N5zWJtjo1a-UC8egmrSBq5oCtT62K2NDbPQ130_assertion description "[Phenotypes with GATA4 or NKX2.5 mutations in familial atrial septal defect.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP4497.RATZ3Ncgq_N5zWJtjo1a-UC8egmrSBq5oCtT62K2NDbPQ130_provenance.
• NP4499.RAVBINz06aLCv6mgdKti3QZw8KcDdcb2yerE0VTx9sxKA130_assertion description "[Mutations of the GATA4 and NKX2.5 genes in Chinese pediatric patients with non-familial congenital heart disease.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP4499.RAVBINz06aLCv6mgdKti3QZw8KcDdcb2yerE0VTx9sxKA130_provenance.
• NP4512.RAYdtcIIvKsF4qD21yB2KB5Mn-QXe_oGbIXWKD7iL1P9I130_assertion description "[Molecular basis of the spectral expression of CIAS1 mutations associated with phagocytic cell-mediated autoinflammatory disorders CINCA/NOMID, MWS, and FCU.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP4512.RAYdtcIIvKsF4qD21yB2KB5Mn-QXe_oGbIXWKD7iL1P9I130_provenance.
• NP4513.RAUZH40KHNLKT8dUm8jGWjvmMiG0aKvsyfT_kCpJ6-_Ac130_assertion description "[Molecular basis of the spectral expression of CIAS1 mutations associated with phagocytic cell-mediated autoinflammatory disorders CINCA/NOMID, MWS, and FCU.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP4513.RAUZH40KHNLKT8dUm8jGWjvmMiG0aKvsyfT_kCpJ6-_Ac130_provenance.
• NP4517.RAdWYWzIJTfDgriXbRsPWPZtrV4OA99Gkgt3vgjyMd0rw130_assertion description "[De novo CIAS1 mutations, cytokine activation, and evidence for genetic heterogeneity in patients with neonatal-onset multisystem inflammatory disease (NOMID): a new member of the expanding family of pyrin-associated autoinflammatory diseases.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP4517.RAdWYWzIJTfDgriXbRsPWPZtrV4OA99Gkgt3vgjyMd0rw130_provenance.
• NP4520.RAeZW2UIqW-DBQ-MiF9kgXdGyjqiZwQMm0pINBYwyKPwA130_assertion description "[Exome sequencing identifies NMNAT1 mutations as a cause of Leber congenital amaurosis.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP4520.RAeZW2UIqW-DBQ-MiF9kgXdGyjqiZwQMm0pINBYwyKPwA130_provenance.
• NP4522.RAYF3nmK0-5yeJi-XXGtLysuEwnX45-4_3yzIx9ouTyGk130_assertion description "[Here we report that compound heterozygous and homozygous NMNAT1 mutations cause severe neonatal neurodegeneration of the central retina and early-onset optic atrophy in 22 unrelated individuals.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP4522.RAYF3nmK0-5yeJi-XXGtLysuEwnX45-4_3yzIx9ouTyGk130_provenance.
• NP4523.RAYZaspMPpCtBs_9PTJTZp8JqqwmkSiLg-RPgcJ-BOYPI130_assertion description "[NOBOX homeobox mutation causes premature ovarian failure.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP4523.RAYZaspMPpCtBs_9PTJTZp8JqqwmkSiLg-RPgcJ-BOYPI130_provenance.
• NP4525.RAaXe46kjdnpBepb2XArmMzPYNxzBXnVcXbwWlyIRU_cc130_assertion description "[CARD15 mutations in Blau syndrome.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP4525.RAaXe46kjdnpBepb2XArmMzPYNxzBXnVcXbwWlyIRU_cc130_provenance.
• NP4528.RAQ4Y-tApqwrm6vcEDrjNPXsmN2zjxdkXDYBeezro-cn4130_assertion description "[A novel mutation in the NOD2 gene associated with Blau syndrome: a Norwegian family with four affected members.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP4528.RAQ4Y-tApqwrm6vcEDrjNPXsmN2zjxdkXDYBeezro-cn4130_provenance.
• NP4542.RAZJ0FxaG_dnGHGsLwv-5-y7lIXQQH0EgrBlsAtkAdom4130_assertion description "[NOTCH2 mutations cause Alagille syndrome, a heterogeneous disorder of the notch signaling pathway.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP4542.RAZJ0FxaG_dnGHGsLwv-5-y7lIXQQH0EgrBlsAtkAdom4130_provenance.
• NP4544.RATEh9dTm7B7_MSLs40dtO_4ZPVIGU5l_7NzJDmPRN-ss130_assertion description "[Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) is a hereditary angiopathy caused by mutations in the NOTCH3 gene.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP4544.RATEh9dTm7B7_MSLs40dtO_4ZPVIGU5l_7NzJDmPRN-ss130_provenance.
• NP4546.RAUrKXwXavI__ctRAzqsox-sFWs-rmIEhDEeccv_ZgtRU130_assertion description "[Thus, contribution of Notch3 gene mutations is less than one fourth of Japanese CADASIL families, suggesting the existence of other causative genes in CADASIL.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP4546.RAUrKXwXavI__ctRAzqsox-sFWs-rmIEhDEeccv_ZgtRU130_provenance.
• NP4548.RAc6sfn436imNJosqwztk5rwgLqt9GkE7SVq3Kj9EaGzk130_assertion description "[Gene symbol: NOTCH3. Disease: cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP4548.RAc6sfn436imNJosqwztk5rwgLqt9GkE7SVq3Kj9EaGzk130_provenance.
• NP4549.RAUKKJdp81Ocw37IyCtaOfgx5sjuBPWfFxWUTpT2EmuRo130_assertion description "[Gene symbol: NOTCH3. Disease: CADASIL.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP4549.RAUKKJdp81Ocw37IyCtaOfgx5sjuBPWfFxWUTpT2EmuRo130_provenance.
• NP4559.RAXrCXJXZz9db2lpF1hsIl962jOHlGWrWAiaUivR7Qcgc130_assertion description "[The novel NPC1 mutations include 14 amino acid substitutions [R372W (c.1114C>T), P434L (c.1301C>T), C479Y (c.1436G>A), K576R (c.1727G>A), V727F (c.2179G>T), M754K (c.2261T>A), S865L (c.2594C>T), A926T (c.2776G>A), D948H (c.2842G>C), V959E (c.2876T>A), T1036K (c.3107C>A), T1066N (c.3197C>A), N1156I (c.3467A>T) and F1224L (c.3672C>G)], four stop codon [W260X (c.780G>A), S425X (c.1274C>A), C645X (c.1935T>A) and R1059X (c.3175C>T)], two donor splice-site mutations [IVS7+1G>A (g.31432G>A) and IVS21+2insG (g.51871insG)], one in-frame mutation [N961_F966delinsS (c.2882del16bpins1bp)] and five frameshift mutations [V299fsX8 (c.895insT), A558fsX11 (c.1673insG), C778fsX10 (c.2334insT), G993fsX3 (c.2973_78delG) and F1221fsX20 (c.3662delT)].]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP4559.RAXrCXJXZz9db2lpF1hsIl962jOHlGWrWAiaUivR7Qcgc130_provenance.
• NP4560.RAdNTxHnT4VAJepA2xczGh8p0KpAChIP_97DBIsPsL0Nw130_assertion description "[Frontal lobe atrophy due to a mutation in the cholesterol binding protein HE1/NPC2.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP4560.RAdNTxHnT4VAJepA2xczGh8p0KpAChIP_97DBIsPsL0Nw130_provenance.
• NP4571.RAaPecbwGxELttU_4sfW4r0YnXnoWFy4guotpXV-liw9E130_assertion description "[Congenital nephrotic syndrome, Finnish type (CNF or NPHS1), is an autosomal recessive disease characterized by massive proteinuria and development of nephrotic syndrome shortly after birth.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP4571.RAaPecbwGxELttU_4sfW4r0YnXnoWFy4guotpXV-liw9E130_provenance.
• NP4572.RAf_MYEdIA4w0Igy1Htfy8rHSoZuLAml9-EG60SRRgeCo130_assertion description "[Nineteen novel NPHS1 mutations in a worldwide cohort of patients with congenital nephrotic syndrome (CNS).]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP4572.RAf_MYEdIA4w0Igy1Htfy8rHSoZuLAml9-EG60SRRgeCo130_provenance.
• NP4573.RATKFzVOLSUZsJDc4-YDuuGIVSRqUJXQCijZw8gl9by3A130_assertion description "[Congenital nephrotic syndrome of the Finnish type (CNF or NPHS1) is an autosomal recessive kidney disorder resulting in severe proteinurea and renal dysfunction.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP4573.RATKFzVOLSUZsJDc4-YDuuGIVSRqUJXQCijZw8gl9by3A130_provenance.
• NP4574.RAZuEF_BlQxV7HR4_VtpiJfiOUcmPcX-6-pwLRwzqzybQ130_assertion description "[Nephrin mutations can cause childhood-onset steroid-resistant nephrotic syndrome.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP4574.RAZuEF_BlQxV7HR4_VtpiJfiOUcmPcX-6-pwLRwzqzybQ130_provenance.
• NP4579.RAbYnlp2E2yD8dhSDBYFdly1IEOOUmVFkUvTEIsnCJmyw130_assertion description "[The autosomal recessive skeletal dysplasia known as `acromesomelic dysplasia, type Maroteaux` (AMDM) maps to an interval that contains NPR2.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP4579.RAbYnlp2E2yD8dhSDBYFdly1IEOOUmVFkUvTEIsnCJmyw130_provenance.
• NP4582.RAXBRR_Aa3MDItQKAPJRluo1H1bXCdpYfUeCQ7Ydypm0g130_assertion description "[Nine novel mutations in NR0B1 (DAX1) causing adrenal hypoplasia congenita.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP4582.RAXBRR_Aa3MDItQKAPJRluo1H1bXCdpYfUeCQ7Ydypm0g130_provenance.
• NP4585.RAZvndfrcbLly-RJnmc0r_LuM2vH7l7cj1vqCK7wdSjMI130_assertion description "[Consistent with the patient's mild clinical phenotype, the I439S mutation conferred intermediate levels of repressor activity of DAX-1 when compared with mutations associated with classic AHC.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP4585.RAZvndfrcbLly-RJnmc0r_LuM2vH7l7cj1vqCK7wdSjMI130_provenance.
• NP4587.RAQcjyLTfMivKGER5Fy4afEMvlcF9XTlwrzywxIpSwzwc130_assertion description "[Novel DAX1 mutations in X-linked adrenal hypoplasia congenita and hypogonadotrophic hypogonadism.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP4587.RAQcjyLTfMivKGER5Fy4afEMvlcF9XTlwrzywxIpSwzwc130_provenance.
• NP4590.RAdCWHzEfVBSYwUMIm9WqTln4quTUPxcgq2SsCUYf7WhA130_assertion description "[Mutation of a nuclear receptor gene, NR2E3, causes enhanced S cone syndrome, a disorder of retinal cell fate.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP4590.RAdCWHzEfVBSYwUMIm9WqTln4quTUPxcgq2SsCUYf7WhA130_provenance.
• NP4598.RAegekSWiMiDHah7TypV331PGRxrQ1fYWv0y9VWCRd_qU130_assertion description "[A novel, C-terminal dominant negative mutation of the GR causes familial glucocorticoid resistance through abnormal interactions with p160 steroid receptor coactivators.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP4598.RAegekSWiMiDHah7TypV331PGRxrQ1fYWv0y9VWCRd_qU130_provenance.
• NP4601.RAT2UC-3WX6QbywvE1a5hFlC6wjUHEdsTpI57hfqVbg14130_assertion description "[Mineralocorticoid receptor mutations are the principal cause of renal type 1 pseudohypoaldosteronism.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP4601.RAT2UC-3WX6QbywvE1a5hFlC6wjUHEdsTpI57hfqVbg14130_provenance.
• NP4602.RAfuLfd3xiH2r_qvN_gpSFK3fU0w2MRwa6IRbtekNqlNQ130_assertion description "[Elucidating the underlying molecular pathogenesis of NR3C2 mutants causing autosomal dominant pseudohypoaldosteronism type 1.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP4602.RAfuLfd3xiH2r_qvN_gpSFK3fU0w2MRwa6IRbtekNqlNQ130_provenance.
• NP4603.RAUFKDj6HiCDPxiZug9K0MNbpgUL6z9p1u3tdkNXiwS7A130_assertion description "[A mutation in the gene encoding steroidogenic factor-1 causes XY sex reversal and adrenal failure in humans.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP4603.RAUFKDj6HiCDPxiZug9K0MNbpgUL6z9p1u3tdkNXiwS7A130_provenance.
• NP4606.RAYQU0-S1O-bKSWwgJMIGUWAkknIeKvu4wt6j9HuDrOFU130_assertion description "[Heterozygous missense mutations in steroidogenic factor 1 (SF1/Ad4BP, NR5A1) are associated with 46,XY disorders of sex development with normal adrenal function.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP4606.RAYQU0-S1O-bKSWwgJMIGUWAkknIeKvu4wt6j9HuDrOFU130_provenance.
• NP4607.RAQMFFS3XfW9swYynpEqlIvkRKtYd66wkajrgVf-n4B6w130_assertion description "[Apparently normal ovarian differentiation in a prepubertal girl with transcriptionally inactive steroidogenic factor 1 (NR5A1/SF-1) and adrenocortical insufficiency.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP4607.RAQMFFS3XfW9swYynpEqlIvkRKtYd66wkajrgVf-n4B6w130_provenance.
• NP4610.RAc9RZvGSfh6qNF4gOteLuRe9xfPLLnuOqfBwhYrA04oI130_assertion description "[Human male infertility associated with mutations in NR5A1 encoding steroidogenic factor 1.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP4610.RAc9RZvGSfh6qNF4gOteLuRe9xfPLLnuOqfBwhYrA04oI130_provenance.
• NP4611.RAU0_Lr_yw6-Tquhr3Dx_M3h4-XgkEKZPSQmOohd5YIqc130_assertion description "[NRAS mutation causes a human autoimmune lymphoproliferative syndrome.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP4611.RAU0_Lr_yw6-Tquhr3Dx_M3h4-XgkEKZPSQmOohd5YIqc130_provenance.
• NP4619.RAc_1S-QG02hWlbPjTmNX6jtlgIV88ZXfPFocZ0FKSNjA130_assertion description "[A novel missense mutation of NSDHL in an unusual case of CHILD syndrome showing bilateral, almost symmetric involvement.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP4619.RAc_1S-QG02hWlbPjTmNX6jtlgIV88ZXfPFocZ0FKSNjA130_provenance.
• NP4627.RAdixJ09uCNuu-w74vkcjumRgCb3vLgKJVVJX1gQyFgHs130_assertion description "[Congenital insensitivity to pain with anhidrosis (CIPA) in Israeli-Bedouins: genetic heterogeneity, novel mutations in the TRKA/NGF receptor gene, clinical findings, and results of nerve conduction studies.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP4627.RAdixJ09uCNuu-w74vkcjumRgCb3vLgKJVVJX1gQyFgHs130_provenance.
• NP4631.RAdJDA0L9gFcjQToIIPl6SnIWUiodVb2gOZyWMhXEbHp0130_assertion description "[Mutated nup62 causes autosomal recessive infantile bilateral striatal necrosis.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP4631.RAdJDA0L9gFcjQToIIPl6SnIWUiodVb2gOZyWMhXEbHp0130_provenance.
• NP4636.RARikd7QOxb3YrsObtrlQWoAaYZK8CKQhjnNLdwY5HSF4130_assertion description "[Pyridoxine-responsive gyrate atrophy of the choroid and retina: clinical and biochemical correlates of the mutation A226V.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP4636.RARikd7QOxb3YrsObtrlQWoAaYZK8CKQhjnNLdwY5HSF4130_provenance.
• NP4637.RAcz7Sm-w5DPrUBhp-UUV0k10tJlaNszl-GAsfL3NqvLs130_assertion description "[]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP4637.RAcz7Sm-w5DPrUBhp-UUV0k10tJlaNszl-GAsfL3NqvLs130_provenance.
• NP4641.RATZ84i7DmDWSTsxUnglGUxn3Q0DRd2ww3JcQVD2pSF0g130_assertion description "[Further mutational analysis is needed to help define the critical functional domains of the P protein and to allow a definitive diagnosis of OCA2.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP4641.RATZ84i7DmDWSTsxUnglGUxn3Q0DRd2ww3JcQVD2pSF0g130_provenance.
• NP4646.RAT3tppuzF8xdBZykTX7fk7Z7IWcMV7hKHr-6CLyz7MOc130_assertion description "[Novel and recurrent mutations in the tyrosinase gene and the P gene in the German albino population.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP4646.RAT3tppuzF8xdBZykTX7fk7Z7IWcMV7hKHr-6CLyz7MOc130_provenance.
• NP4651.RAbedb8tcEJAao-VqlFPwNvWybKx6_FlN_HLM_IzX5B5o130_assertion description "[Mutations are not uniformly distributed throughout the OCRL1 gene in Lowe syndrome patients.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP4651.RAbedb8tcEJAao-VqlFPwNvWybKx6_FlN_HLM_IzX5B5o130_provenance.
• NP4653.RAZtr-DFJICofoglTzGx9TTYfEjgzHCT44RJn3z63RL7c130_assertion description "[Spectrum of mutations in the OCRL1 gene in the Lowe oculocerebrorenal syndrome.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP4653.RAZtr-DFJICofoglTzGx9TTYfEjgzHCT44RJn3z63RL7c130_provenance.
• NP4657.RAdKU4gBxmSnn_dq7URic69Vm4s2pP3KcwveKK3f1c8P4130_assertion description "[From Lowe syndrome to Dent disease: correlations between mutations of the OCRL1 gene and clinical and biochemical phenotypes.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP4657.RAdKU4gBxmSnn_dq7URic69Vm4s2pP3KcwveKK3f1c8P4130_provenance.
• NP4658.RAeai43VoI8HxdTjx5680xMpLO_6ouCpa_lvZXu_dJIw8130_assertion description "[Dent Disease with mutations in OCRL1.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP4658.RAeai43VoI8HxdTjx5680xMpLO_6ouCpa_lvZXu_dJIw8130_provenance.
• NP4668.RAYAAiWceaR2T6hoGEugHn7aLxSp435Xd1zp_1bqtyxBY130_assertion description "[OPA1 mutations and mitochondrial DNA haplotypes in autosomal dominant optic atrophy.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP4668.RAYAAiWceaR2T6hoGEugHn7aLxSp435Xd1zp_1bqtyxBY130_provenance.
• NP4678.RATZJEG08A9FLA0HAuitxBEczuOU3EhJKK2AonmGc0imU130_assertion description "[Our analysis of loss of heterozygosity at 11q25 identified OPCML (also called OBCAM), a member of the IgLON family of immunoglobulin (Ig) domain-containing glycosylphosphatidylinositol (GPI)-anchored cell adhesion molecules, as a candidate TSG in EOC.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP4678.RATZJEG08A9FLA0HAuitxBEczuOU3EhJKK2AonmGc0imU130_provenance.
• NP4681.RAZFvKmoe348tBgB9UdPD2d7EoEvbltTmJeABiXoGNhbs130_assertion description "[Novel missense mutations in red/green opsin genes in congenital color-vision deficiencies.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP4681.RAZFvKmoe348tBgB9UdPD2d7EoEvbltTmJeABiXoGNhbs130_provenance.
• NP4683.RARlsHk0OL9tOHvXmuGaKM16hXXso4yu5CxZYh3cHCK70130_assertion description "[X-linked cone dystrophy caused by mutation of the red and green cone opsins.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP4683.RARlsHk0OL9tOHvXmuGaKM16hXXso4yu5CxZYh3cHCK70130_provenance.
• NP4685.RAcj36fAj-09aSMOE08gZCvAi9XvgkyRHOSUQYbo51QFk130_assertion description "[Novel missense mutations in red/green opsin genes in congenital color-vision deficiencies.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP4685.RAcj36fAj-09aSMOE08gZCvAi9XvgkyRHOSUQYbo51QFk130_provenance.
• NP4692.RASJXKQWxj4Uy6pJf9EiS_LCFSSTtPCe4r6KQSebTLB_8130_assertion description "[Mutations of optineurin in amyotrophic lateral sclerosis.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP4692.RASJXKQWxj4Uy6pJf9EiS_LCFSSTtPCe4r6KQSebTLB_8130_provenance.
• NP4694.RAYhBXmPDLF5hn6pWjWtLDHMF13cJtLDg8kbA4Cu5kpaw130_assertion description "[Mutations in ORC1, encoding the largest subunit of the origin recognition complex, cause microcephalic primordial dwarfism resembling Meier-Gorlin syndrome.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP4694.RAYhBXmPDLF5hn6pWjWtLDHMF13cJtLDg8kbA4Cu5kpaw130_provenance.
• NP4699.RAb9lJsypEM9aqyDDnBjFuNygR8Yy8wWeNJsrc-Xy8ss8130_assertion description "[Novel IL31RA gene mutation and ancestral OSMR mutant allele in familial primary cutaneous amyloidosis.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP4699.RAb9lJsypEM9aqyDDnBjFuNygR8Yy8wWeNJsrc-Xy8ss8130_provenance.
• NP4701.RAZBW4bbe036mNP9Gg3pW5slHafRzF6UMt_wyIG3D1XJ0130_assertion description "[Identification of a cytogenetic deletion and of four novel mutations (Q69X, I172F, G188V, G197R) affecting the gene for ornithine transcarbamylase (OTC) in Spanish patients with OTC deficiency.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP4701.RAZBW4bbe036mNP9Gg3pW5slHafRzF6UMt_wyIG3D1XJ0130_provenance.
• NP4719.RAcoO0gf0P5Y_-iO6oabJZU5_dLLS8eoe-MkeGFzW3YPs130_assertion description "[Subcortical band heterotopia in rare affected males can be caused by missense mutations in DCX (XLIS) or LIS1.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP4719.RAcoO0gf0P5Y_-iO6oabJZU5_dLLS8eoe-MkeGFzW3YPs130_provenance.
• NP4725.RAYXvjQ0yEXP-CLPyIP25FHmaqXh02mdgqHEaCC9uLTWk130_assertion description "[To elucidate the molecular basis of functional impairment in PAH deficiency, we investigated the impact of ten PAH gene mutations identified in patients with BH(4)-responsiveness on enzyme kinetics, stability, and conformation of the protein (F55L, I65S, H170Q, P275L, A300S, S310Y, P314S, R408W, Y414C, Y417H).]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP4725.RAYXvjQ0yEXP-CLPyIP25FHmaqXh02mdgqHEaCC9uLTWk130_provenance.
• NP4726.RARUaxfs3ReWZodiEo7miKyQ6HuLmzo1aSkD30ZgQyYfE130_assertion description "[Mutations in the gene encoding phenylalanine hydroxylase (PAH, EC 1.14.16.1) are associated with various degrees of hyperphenylalaninemia, including classical phenylketonuria (PKU).]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP4726.RARUaxfs3ReWZodiEo7miKyQ6HuLmzo1aSkD30ZgQyYfE130_provenance.
• NP4728.RAWZKBVI4I_J06twH_ZTlmDpxQ1KFIzuvk6lSL4RpqFGw130_assertion description "[A new missense mutation in the phenylalanine hydroxylase (PAH) gene was identified in 20/30 members of the families of 10 unrelated Japanese phenylketonuria (PKU) patients from Kyushu island.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP4728.RAWZKBVI4I_J06twH_ZTlmDpxQ1KFIzuvk6lSL4RpqFGw130_provenance.
• NP4731.RAdwLMJ4S924gwOgaseKFmPWf7L2b4DVYv-ECCTr3ig-g130_assertion description "[We performed haplotype analysis of the phenylalanine hydroxylase (PAH) gene of 36 U.S. blacks, 16 from individuals with classical PKU and 20 from controls.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP4731.RAdwLMJ4S924gwOgaseKFmPWf7L2b4DVYv-ECCTr3ig-g130_provenance.
• NP4736.RAc-jsgzq2BHZcJgIZ2ys6t_s-sZl890qfng-HDc1wxws130_assertion description "[We describe the case of an adult female with Hallervorden-Spatz disease (HSD), `eye-of-the-tiger` sign on cranial magnetic resonance imaging scan, and two mutations in the pantothenate kinase 2 (PANK2) gene.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP4736.RAc-jsgzq2BHZcJgIZ2ys6t_s-sZl890qfng-HDc1wxws130_provenance.
• NP4737.RAaQ0zvvrAMmr6Z1boTEjod78wyUO48GhbrWRwnli8LjQ130_assertion description "[PANK2 mutations are associated with all cases of classic Hallervorden-Spatz syndrome and one third of cases of atypical disease.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP4737.RAaQ0zvvrAMmr6Z1boTEjod78wyUO48GhbrWRwnli8LjQ130_provenance.
• NP4743.RAVA1jpPA35OGfCnGRqBgfCWfIRglTSdUw4QHDv-izZvU130_assertion description "[Relative high frequency of the c.255delA parkin gene mutation in Spanish patients with autosomal recessive parkinsonism.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP4743.RAVA1jpPA35OGfCnGRqBgfCWfIRglTSdUw4QHDv-izZvU130_provenance.
• NP4745.RAbc_rFUhD9ZNEnG7tgSsLBY3qhTpX1-7pgpnFG73A_8U130_assertion description "[A new point mutation on exon 2 of parkin gene in Parkinson's disease].]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP4745.RAbc_rFUhD9ZNEnG7tgSsLBY3qhTpX1-7pgpnFG73A_8U130_provenance.
• NP4749.RAVKlxCdyHyUpFqjbAJN2HA4ZEGkvDUoraCgPitodgTOU130_assertion description "[Role of parkin mutations in 111 community-based patients with early-onset parkinsonism.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP4749.RAVKlxCdyHyUpFqjbAJN2HA4ZEGkvDUoraCgPitodgTOU130_provenance.
• NP4751.RAXPh7iS2dMsTzhnSNTu6V9G9toTYdZVV5CA8hR6v0gnQ130_assertion description "[]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP4751.RAXPh7iS2dMsTzhnSNTu6V9G9toTYdZVV5CA8hR6v0gnQ130_provenance.
• NP4753.RAdKgUoBsKpO6_xSNdauPEgqz_HLfRcddiK4LTmcscosE130_assertion description "[Molecular findings in familial Parkinson disease in Spain.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP4753.RAdKgUoBsKpO6_xSNdauPEgqz_HLfRcddiK4LTmcscosE130_provenance.
• NP4755.RASMdjNTXdAwBjf8eRY60JlY4Z_OG9T0Ptmw2zJpN7jT4130_assertion description "[Novel parkin mutations detected in patients with early-onset Parkinson's disease.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP4755.RASMdjNTXdAwBjf8eRY60JlY4Z_OG9T0Ptmw2zJpN7jT4130_provenance.
• NP4756.RAZQoD1SAgudyYx8U65pkCDcp8WY9Pi_1dlP342O1jhwQ130_assertion description "[Novel mutations, pseudo-dominant inheritance, and possible familial affects in patients with autosomal recessive juvenile parkinsonism.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP4756.RAZQoD1SAgudyYx8U65pkCDcp8WY9Pi_1dlP342O1jhwQ130_provenance.
• NP4770.RAa7Qf5iZBAmf5IfjZOatopPffRa93T2OaCPqcicBPle8130_assertion description "[We have identified 11 mutational changes in the PAX3 gene in patients with type 1 Waardenburg syndrome (WS1) including three in the paired domain, six within or immediately adjacent to the homeodomain and two previously described polymorphic variants in exons 2 and 6.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP4770.RAa7Qf5iZBAmf5IfjZOatopPffRa93T2OaCPqcicBPle8130_provenance.
• NP4773.RAfwYTKoYkPbwfgKmdFWLfysASIMOcfXeKatOohGJMv28130_assertion description "[Mutations in PAX3 have been described in patients with Type 1 Waardenburg syndrome, who have hearing loss and pigmentary abnormalities, while Splotch mice have mutations in the homologous mouse Pax-3 gene.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP4773.RAfwYTKoYkPbwfgKmdFWLfysASIMOcfXeKatOohGJMv28130_provenance.
• NP4775.RAayFwbS1U1mwXBAEoJk9cBaYDFxUtCW0Rmq5WjY8QNUo130_assertion description "[Mutations in the paired domain of the human PAX3 gene cause Klein-Waardenburg syndrome (WS-III) as well as Waardenburg syndrome type I (WS-I).]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP4775.RAayFwbS1U1mwXBAEoJk9cBaYDFxUtCW0Rmq5WjY8QNUo130_provenance.
• NP4785.RAQonog_ZLLcWH1H_kEMNaWe3IWoFIH-IpSfU_VLpHGC8130_assertion description "[PAX6 mutation in a family with aniridia, congenital ptosis, and mental retardation.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP4785.RAQonog_ZLLcWH1H_kEMNaWe3IWoFIH-IpSfU_VLpHGC8130_provenance.
• NP4792.RAaK3mKCeXcj6ekGfV6zA4TKd7cp3gXtwx1tWk47q5DD0130_assertion description "[The PAX6 gene is involved in ocular morphogenesis, and PAX6 mutations have been detected in various types of ocular anomalies, including aniridia, Peters anomaly, corneal dystrophy, congenital cataract, and foveal hypoplasia.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP4792.RAaK3mKCeXcj6ekGfV6zA4TKd7cp3gXtwx1tWk47q5DD0130_provenance.
• NP4798.RAeKOnZgiYmuoD_Ci-lxt5Em8F83gxPE7Mh7kO6B0vVTA130_assertion description "[PAX8 mutations associated with congenital hypothyroidism caused by thyroid dysgenesis.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP4798.RAeKOnZgiYmuoD_Ci-lxt5Em8F83gxPE7Mh7kO6B0vVTA130_provenance.
• NP4805.RAXHE0jdJTlLmT9oiN6GVtNGGIU2bVJfaJfU6KyzXu7Q8130_assertion description "[In conclusion, a limited number of mutations are predominant in both PCCA and PCCB genes among Japanese patients with propionic acidemia.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP4805.RAXHE0jdJTlLmT9oiN6GVtNGGIU2bVJfaJfU6KyzXu7Q8130_provenance.
• NP4807.RAXLEsvkVh83Z3QZXMmn05gunENR51Si64SkvCcnhR-4g130_assertion description "[]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP4807.RAXLEsvkVh83Z3QZXMmn05gunENR51Si64SkvCcnhR-4g130_provenance.
• NP4810.RAcKhYmLko2C5OhKYY6uRwo9yHzQiBKnpjTI32ub1eZSo130_assertion description "[Propionic acidemia is an inherited metabolic disorder caused by deficiency of propionyl-CoA carboxylase, a dodecameric enzyme composed of alpha-PCC and beta-PCC subunits (encoded by genes PCCA and PCCB) that have been associated with a number of mutations responsible for this disease.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP4810.RAcKhYmLko2C5OhKYY6uRwo9yHzQiBKnpjTI32ub1eZSo130_provenance.
• NP4813.RAb5aL6HETvEYraGDsUkXtJUxSpCb2LLbOztCH-xmzxmw130_assertion description "[Gene structure and mutant alleles of PCDH15: nonsyndromic deafness DFNB23 and type 1 Usher syndrome.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP4813.RAb5aL6HETvEYraGDsUkXtJUxSpCb2LLbOztCH-xmzxmw130_provenance.
• NP4817.RAWuWNuOfCA7pbO9Y64YJt0-nYwmAZ-sSTgWb_VNHD074130_assertion description "[X-linked protocadherin 19 mutations cause female-limited epilepsy and cognitive impairment.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP4817.RAWuWNuOfCA7pbO9Y64YJt0-nYwmAZ-sSTgWb_VNHD074130_provenance.
• NP4826.RAReYNcFA2RTfLJFQm1LBjZGmyuS2-VfhVyX1JwKQbMtY130_assertion description "[Structural insights on pathogenic effects of novel mutations causing pyruvate carboxylase deficiency.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP4826.RAReYNcFA2RTfLJFQm1LBjZGmyuS2-VfhVyX1JwKQbMtY130_provenance.
• NP4828.RAbOhOv5Szr8AFqYGFQXzlalj0RjZiPOrEZlTJvQzF5q4130_assertion description "[Hyperphagia and early-onset obesity due to a novel homozygous missense mutation in prohormone convertase 1/3.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP4828.RAbOhOv5Szr8AFqYGFQXzlalj0RjZiPOrEZlTJvQzF5q4130_provenance.
• NP4830.RAXwJMYcdbpuXJX-n35kw2mH-rOCpuusl2RvkxIhHPrSw130_assertion description "[]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP4830.RAXwJMYcdbpuXJX-n35kw2mH-rOCpuusl2RvkxIhHPrSw130_provenance.

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