Nanopublications LDF server

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

• NP892.RA85pwQUAVvvE5Zt4byuxS2Hpe4p0gkBU2uFr71vcSymY130_assertion description "[Pseudometabolic expression and phenotypic variability of calpain deficiency in two siblings.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP892.RA85pwQUAVvvE5Zt4byuxS2Hpe4p0gkBU2uFr71vcSymY130_provenance.
• NP899.RA9Rrl1c16NttruF7EIo1_qoZp3gqYSQTVUnI6OCqGQgc130_assertion description "[Here, we report a mutation of CASC5 (aka Blinkin, or KNL1, or hSPC105) in MCPH patients from three consanguineous families, in one of which we initially reported the MCPH4 locus.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP899.RA9Rrl1c16NttruF7EIo1_qoZp3gqYSQTVUnI6OCqGQgc130_provenance.
• NP908.RAzUzjP-cNkQz1nE_7F7tP_e8pyen4eqe4YthGIstqsYg130_assertion description "[Catecholaminergic polymorphic ventricular tachycardia-related mutations R33Q and L167H alter calcium sensitivity of human cardiac calsequestrin.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP908.RAzUzjP-cNkQz1nE_7F7tP_e8pyen4eqe4YthGIstqsYg130_provenance.
• NP910.RA-jCghG7qrZwJVCJgIS0Dp-_O7cCiV9khwnXPYXj8mt8130_assertion description "[Molecular genetic analysis of the calcium sensing receptor gene in patients clinically suspected to have familial hypocalciuric hypercalcemia: phenotypic variation and mutation spectrum in a Danish population.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP910.RA-jCghG7qrZwJVCJgIS0Dp-_O7cCiV9khwnXPYXj8mt8130_provenance.
• NP912.RA45JcB4Td-2ppoMY7sPcHf1EotbQEA7u5EXB2Jtz35kQ130_assertion description "[Identification of a novel inactivating R465Q mutation of the calcium-sensing receptor.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP912.RA45JcB4Td-2ppoMY7sPcHf1EotbQEA7u5EXB2Jtz35kQ130_provenance.
• NP915.RAwrg3AqLX5DGFZvtBWDJeOpf_Rnv2eqq3-i9qnBWR6Iw130_assertion description "[A novel mutation in Ca2+-sensing receptor gene in familial hypocalciuric hypercalcemia.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP915.RAwrg3AqLX5DGFZvtBWDJeOpf_Rnv2eqq3-i9qnBWR6Iw130_provenance.
• NP917.RA6P5AqHeU8owEZBfEa2tJ-3BBhOxK9TVixVc9e3nNy1s130_assertion description "[Mutations in the human Ca(2+)-sensing-receptor gene that cause familial hypocalciuric hypercalcemia.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP917.RA6P5AqHeU8owEZBfEa2tJ-3BBhOxK9TVixVc9e3nNy1s130_provenance.
• NP924.RAze6cyXit52msyp8qYzN38hIjIUDuM7IpouzPTa5EzrQ130_assertion description "[A hypocalcemic child with a novel activating mutation of the calcium-sensing receptor gene: successful treatment with recombinant human parathyroid hormone.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP924.RAze6cyXit52msyp8qYzN38hIjIUDuM7IpouzPTa5EzrQ130_provenance.
• NP928.RA_qqE0iSIhITlXoAHtw9zK_CTRUxM1UOMpjJKC_SpAfY130_assertion description "[Hydrochlorothiazide effectively reduces urinary calcium excretion in two Japanese patients with gain-of-function mutations of the calcium-sensing receptor gene.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP928.RA_qqE0iSIhITlXoAHtw9zK_CTRUxM1UOMpjJKC_SpAfY130_provenance.
• NP929.RAxRgcuwxH7g_VtZbS1uj3KDqPloiRUxW949vc06E7aJU130_assertion description "[A family of autosomal dominant hypocalcemia with a positive correlation between serum calcium and magnesium: identification of a novel gain of function mutation (Ser(820)Phe) in the calcium-sensing receptor.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP929.RAxRgcuwxH7g_VtZbS1uj3KDqPloiRUxW949vc06E7aJU130_provenance.
• NP932.RA3fopZwKVcN3h2uP2oGiBo6dYt7dRYIgrnSz3RfPuDOM130_assertion description "[Familial hypoparathyroidism: identification of a novel gain of function mutation in transmembrane domain 5 of the calcium-sensing receptor.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP932.RA3fopZwKVcN3h2uP2oGiBo6dYt7dRYIgrnSz3RfPuDOM130_provenance.
• NP940.RA4dAlEZfYyRhWZACFZFYt_UK6Vdf4q9AK2up_-gADVdU130_assertion description "[Mutations in CAV3 cause mechanical hyperirritability of skeletal muscle in rippling muscle disease.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP940.RA4dAlEZfYyRhWZACFZFYt_UK6Vdf4q9AK2up_-gADVdU130_provenance.
• NP949.RA5aRUe4NaNvGeeZTBDJvTy5nMYNoKP4c5jIs4izucWSw130_assertion description "[Molecular and muscle pathology in a series of caveolinopathy patients.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP949.RA5aRUe4NaNvGeeZTBDJvTy5nMYNoKP4c5jIs4izucWSw130_provenance.
• NP952.RA61q8xaAykY5NUixW9Pmgg003WnCuRPReMoIWHALArn0130_assertion description "[Novel mechanism for sudden infant death syndrome: persistent late sodium current secondary to mutations in caveolin-3.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP952.RA61q8xaAykY5NUixW9Pmgg003WnCuRPReMoIWHALArn0130_provenance.
• NP959.RAwrLgvcj51W6zfgZWDPxpJfIu_2DgDg5GYSxwDBBvn1w130_assertion description "[Identification and functional analysis of cystathionine beta-synthase gene mutations in patients with homocystinuria.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP959.RAwrLgvcj51W6zfgZWDPxpJfIu_2DgDg5GYSxwDBBvn1w130_provenance.
• NP962.RA8H7Uh1VKqd_oRMFVPv1at4lWRHCzpIv71M8TBnZhgOM130_assertion description "[Identification and functional analysis of two novel mutations in the CBS gene in Polish patients with homocystinuria.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP962.RA8H7Uh1VKqd_oRMFVPv1at4lWRHCzpIv71M8TBnZhgOM130_provenance.
• NP965.RA0_vim_CJM0kr_gogYcF8qphSGE7sXwukva6wj_cHkAs130_assertion description "[CC2D2A is mutated in Joubert syndrome and interacts with the ciliopathy-associated basal body protein CEP290.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP965.RA0_vim_CJM0kr_gogYcF8qphSGE7sXwukva6wj_cHkAs130_provenance.
• NP967.RA-6EfA2LXDXTNHZTYzQuSJm8vv2HIbleG_X9zWr5-QEY130_assertion description "[Mutation spectrum of Meckel syndrome genes: one group of syndromes or several distinct groups?]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP967.RA-6EfA2LXDXTNHZTYzQuSJm8vv2HIbleG_X9zWr5-QEY130_provenance.
• NP968.RA2J_9ZwvOzupMglaWN--lXvEfzgyD2ZBrI1n-JHsJPdc130_assertion description "[CC2D2A mutations in Meckel and Joubert syndromes indicate a genotype-phenotype correlation.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP968.RA2J_9ZwvOzupMglaWN--lXvEfzgyD2ZBrI1n-JHsJPdc130_provenance.
• NP973.RA8SvoqhmzoHi0UBVFl3syKw5JggcAa8B1m3uAYQDXi5M130_assertion description "[Mutations in CCBE1 cause generalized lymph vessel dysplasia in humans.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP973.RA8SvoqhmzoHi0UBVFl3syKw5JggcAa8B1m3uAYQDXi5M130_provenance.
• NP974.RA3Q92Z9wa6dT1w4NFhqX0f6MrgKF-Cm4aOqAf07MP-Ms130_assertion description "[Mutations within the MGC4607 gene cause cerebral cavernous malformations.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP974.RA3Q92Z9wa6dT1w4NFhqX0f6MrgKF-Cm4aOqAf07MP-Ms130_provenance.
• NP979.RAwt9oUe8Pct8rF3oWznsaJuBbaDlxktKyNJhUclEUsI0130_assertion description "[Mutations of the CD40 ligand gene in 13 Japanese patients with X-linked hyper-IgM syndrome.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP979.RAwt9oUe8Pct8rF3oWznsaJuBbaDlxktKyNJhUclEUsI0130_provenance.
• NP980.RA4Zx8J9oBycCmVAwNkqREb7TgcxajRi6woeqkb2kVfJk130_assertion description "[CD40 ligand mutations in x-linked immunodeficiency with hyper-IgM.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP980.RA4Zx8J9oBycCmVAwNkqREb7TgcxajRi6woeqkb2kVfJk130_provenance.
• NP981.RA1YWRvZxvrCViRz39fK73ApX3D-6JDvbsI6zk_Q9oC-M130_assertion description "[Characterization of nine novel mutations in the CD40 ligand gene in patients with X-linked hyper IgM syndrome of various ancestry.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP981.RA1YWRvZxvrCViRz39fK73ApX3D-6JDvbsI6zk_Q9oC-M130_provenance.
• NP987.RA3djHre3k6rwt0wD6oTLANLQG6FHEIlMvvgRPoBqVsGQ130_assertion description "[]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP987.RA3djHre3k6rwt0wD6oTLANLQG6FHEIlMvvgRPoBqVsGQ130_provenance.
• NP996.RAx81b3jwJUPT6Tnr7KTvudZEJpWbLG_682tKIglKxuZE130_assertion description "[Mutations in CD96, a member of the immunoglobulin superfamily, cause a form of the C (Opitz trigonocephaly) syndrome.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP996.RAx81b3jwJUPT6Tnr7KTvudZEJpWbLG_682tKIglKxuZE130_provenance.
• NP997.RA1kL9IAXU9VdaFwOCJ1zm5W2Wrlx6rlUZC2ZX4nmiKrA130_assertion description "[A cluster of 45 highly inbred Israeli Bedouin with CDAI enabled the mapping of the CDAN1 disease gene to a 2-Mb interval, now refined to 1.2 Mb, containing 15 candidate genes on human chromosome 15q15 (Tamary et al.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP997.RA1kL9IAXU9VdaFwOCJ1zm5W2Wrlx6rlUZC2ZX4nmiKrA130_provenance.
• NP998.RAwTsw3kZZAVm9zAPCpw3RHw8fKFDHajHSweHigyeO1FQ130_assertion description "[Mutations in Codanin-1 can cause congenital dyserythropoietic anaemia type I (CDAI), characterized by chromatin abnormalities in bone marrow erythroblasts.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP998.RAwTsw3kZZAVm9zAPCpw3RHw8fKFDHajHSweHigyeO1FQ130_provenance.
• NP1003.RAxb7cQmuhSEBE2-iyhD0mjsWZus_PTA5WRVKuLvR_jR8130_assertion description "[Germline mutations of E-cadherin gene in Korean familial gastric cancer patients.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP1003.RAxb7cQmuhSEBE2-iyhD0mjsWZus_PTA5WRVKuLvR_jR8130_provenance.
• NP1014.RAymdhRJxU09bBw_zsgRiSdRwE-DHSUDLkLhj2Ud66TJs130_assertion description "[Digenic inheritance of deafness caused by mutations in genes encoding cadherin 23 and protocadherin 15 in mice and humans.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP1014.RAymdhRJxU09bBw_zsgRiSdRwE-DHSUDLkLhj2Ud66TJs130_provenance.
• NP1017.RAz8xaR04gAYTleG-qkuk-lIcjneQ5HTeVUS6JUvH0a2I130_assertion description "[A missense mutation in CDH3, encoding P-cadherin, causes hypotrichosis with juvenile macular dystrophy.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP1017.RAz8xaR04gAYTleG-qkuk-lIcjneQ5HTeVUS6JUvH0a2I130_provenance.
• NP1020.RA7BayhnreP3Z-rGLcGNAtYajmM2LkI2jjxhGR1OyWGRU130_assertion description "[Prevalence of p16 and CDK4 germline mutations in 48 melanoma-prone families in France. The French Familial Melanoma Study Group.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP1020.RA7BayhnreP3Z-rGLcGNAtYajmM2LkI2jjxhGR1OyWGRU130_provenance.
• NP1023.RA8X17msYW5So1NdpAIIW0e6DkM5p232UPh3CSO_Otb2I130_assertion description "[CDKL5 mutations cause infantile spasms, early onset seizures, and severe mental retardation in female patients.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP1023.RA8X17msYW5So1NdpAIIW0e6DkM5p232UPh3CSO_Otb2I130_provenance.
• NP1030.RA5hgiwd8ilgp89-P_V8y_s6R-HJ4OFbGyA8iqNX7HICo130_assertion description "[Functional, structural, and genetic evaluation of 20 CDKN2A germ line mutations identified in melanoma-prone families or patients.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP1030.RA5hgiwd8ilgp89-P_V8y_s6R-HJ4OFbGyA8iqNX7HICo130_provenance.
• NP1031.RAzSoW1z9FaBoQuaUnqGOREwY7bfAkRIKfwA3duFlUB6I130_assertion description "[A novel L94Q mutation in the CDKN2A gene in a melanoma kindred.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP1031.RAzSoW1z9FaBoQuaUnqGOREwY7bfAkRIKfwA3duFlUB6I130_provenance.
• NP1033.RA80Rj_NRADXJXbdbu3apT3EB6R9I3XaQVtqf9_IsU4EI130_assertion description "[A common founder for the V126D CDKN2A mutation in seven North American melanoma-prone families.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP1033.RA80Rj_NRADXJXbdbu3apT3EB6R9I3XaQVtqf9_IsU4EI130_provenance.
• NP1040.RA8nOC-OhX0fBClvZ9JW6IP6n8N53RrV3tTtZ-rtbK9UI130_assertion description "[CDKN2A mutations in Spanish cutaneous malignant melanoma families and patients with multiple melanomas and other neoplasia.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP1040.RA8nOC-OhX0fBClvZ9JW6IP6n8N53RrV3tTtZ-rtbK9UI130_provenance.
• NP1041.RA1Zd598qj-iIcmbAKEO4YZoZ8fKPDNyItC-Ggi-6vNOM130_assertion description "[Hereditary TP53 codon 292 and somatic P16INK4A codon 94 mutations in a Li-Fraumeni syndrome family.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP1041.RA1Zd598qj-iIcmbAKEO4YZoZ8fKPDNyItC-Ggi-6vNOM130_provenance.
• NP1046.RA9js5JDttsMr30ETTxqg-AbhaHM_WB_VZL_gMkDawabk130_assertion description "[Carcinoembryonic antigen-related cell adhesion molecule 16 interacts with alpha-tectorin and is mutated in autosomal dominant hearing loss (DFNA4).]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP1046.RA9js5JDttsMr30ETTxqg-AbhaHM_WB_VZL_gMkDawabk130_provenance.
• NP1047.RAxpIA41GMBCl9unk1Bhn-tBeuQGg1FKa7D_-pBbkdgh4130_assertion description "[Mutations in the planar cell polarity genes CELSR1 and SCRIB are associated with the severe neural tube defect craniorachischisis.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP1047.RAxpIA41GMBCl9unk1Bhn-tBeuQGg1FKa7D_-pBbkdgh4130_provenance.
• NP1054.RA322vr6krAKkkxSciEIbquzHl-A2HLO-YeNkS1i8-fGA130_assertion description "[A missense mutation in the cholesteryl ester transfer protein gene with possible dominant effects on plasma high density lipoproteins.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP1054.RA322vr6krAKkkxSciEIbquzHl-A2HLO-YeNkS1i8-fGA130_provenance.
• NP1057.RA7RgMQffXK5EWi2J-qlo6s8seXwVvuG_VqwmmjKwTfXg130_assertion description "[Mutations in alternative pathway complement proteins in American patients with atypical hemolytic uremic syndrome.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP1057.RA7RgMQffXK5EWi2J-qlo6s8seXwVvuG_VqwmmjKwTfXg130_provenance.
• NP1060.RA9LtE0r2oWroScmLiRqiFMGHj94Ya27L2aeFMoEYKKwQ130_assertion description "[Human factor H deficiency. Mutations in framework cysteine residues and block in H protein secretion and intracellular catabolism.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP1060.RA9LtE0r2oWroScmLiRqiFMGHj94Ya27L2aeFMoEYKKwQ130_provenance.
• NP1064.RA0HP5esv0SffOZseTProoaoauMtIVys522Wxb_QVI4Y4130_assertion description "[Heterozygous and homozygous factor h deficiencies associated with hemolytic uremic syndrome or membranoproliferative glomerulonephritis: report and genetic analysis of 16 cases.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP1064.RA0HP5esv0SffOZseTProoaoauMtIVys522Wxb_QVI4Y4130_provenance.
• NP1067.RA-K6rbL_zWl8NNmIhX5CbV9zRs0GckNJpYIyXi6OezXg130_assertion description "[Haemolytic uraemic syndrome and mutations of the factor H gene: a registry-based study of German speaking countries.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP1067.RA-K6rbL_zWl8NNmIhX5CbV9zRs0GckNJpYIyXi6OezXg130_provenance.
• NP1074.RA4VNfasZ6Y5dwSHAddSlP-RYp_iAWgO3y0_4Cst8vyzU130_assertion description "[A missense mutation in factor I (IF) predisposes to atypical haemolytic uraemic syndrome.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP1074.RA4VNfasZ6Y5dwSHAddSlP-RYp_iAWgO3y0_4Cst8vyzU130_provenance.
• NP1078.RA-C5litRH3fR6Tf93YtoppJ56wsidTJFS8YB9fOSexpI130_assertion description "[Nemaline myopathy with minicores caused by mutation of the CFL2 gene encoding the skeletal muscle actin-binding protein, cofilin-2.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP1078.RA-C5litRH3fR6Tf93YtoppJ56wsidTJFS8YB9fOSexpI130_provenance.
• NP1080.RA486pv8WPJkp9vhJwlkKxVvwKJ2tDpaT4o6HoYRv1J6w130_assertion description "[Expression of properdin in complete and incomplete deficiency: normal in vitro synthesis by monocytes in two cases with properdin deficiency type II due to distinct mutations.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP1080.RA486pv8WPJkp9vhJwlkKxVvwKJ2tDpaT4o6HoYRv1J6w130_provenance.
• NP1082.RA7r8qqKv9WsNJUbO0e8gKaZS21H9psZFyd79o1H5a_RE130_assertion description "[Molecular characterisation of 10 Dutch properdin type I deficient families: mutation analysis and X-inactivation studies.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP1082.RA7r8qqKv9WsNJUbO0e8gKaZS21H9psZFyd79o1H5a_RE130_provenance.
• NP1087.RA3N-TqshQ2yUxkThHmvrlGLEcvbCA3GFi7cAhd_IPIX0130_assertion description "[In order to determine the spectrum of cystic fibrosis (CF) mutations in the Turkish population, a complete coding region of the cystic fibrosis transmembrane conductance regulator (CFTR) gene including exon-intron boundaries, on 122 unrelated CF chromosomes from 73 Turkish CF families was analysed by denaturing gradient gel electrophoresis and multiplex heteroduplex analysis on MDE gel matrix.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP1087.RA3N-TqshQ2yUxkThHmvrlGLEcvbCA3GFi7cAhd_IPIX0130_provenance.
• NP1088.RA3qfVwFvqMJXis0XgZl9LGjMIM4CWQQn36iy7CFY3P7A130_assertion description "[Detection of five novel mutations of the cystic fibrosis transmembrane regulator (CFTR) gene in Pakistani patients with cystic fibrosis: Y569D, Q98X, 296+12(T>C), 1161delC and 621+2(T>C).]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP1088.RA3qfVwFvqMJXis0XgZl9LGjMIM4CWQQn36iy7CFY3P7A130_provenance.
• NP1090.RAyYlxlgrgP8aPn0PUjAnAdKP0w4rIKuyPKxQ7Dcw1CiE130_assertion description "[Mutation characterization of CFTR gene in 206 Northern Irish CF families: thirty mutations, including two novel, account for approximately 94% of CF chromosomes.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP1090.RAyYlxlgrgP8aPn0PUjAnAdKP0w4rIKuyPKxQ7Dcw1CiE130_provenance.
• NP1095.RAznrwCrs87sqploB2ksCYScqvj1c1iEtaiFdjbPfdY6s130_assertion description "[Cystic fibrosis mutation frequencies in upstate New York.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP1095.RAznrwCrs87sqploB2ksCYScqvj1c1iEtaiFdjbPfdY6s130_provenance.
• NP1099.RA4ljMFpif0eUyDvpR39Trb5KpG0q7z9tmiuxSEA9YI-o130_assertion description "[Here we report that mutations in CHAT cause a congenital myasthenic syndrome associated with frequently fatal episodes of apnea (CMS-EA).]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP1099.RA4ljMFpif0eUyDvpR39Trb5KpG0q7z9tmiuxSEA9YI-o130_provenance.
• NP1107.RA0yOen23ctQy2g05gT4dK6Ze70gZetvXRBxDxemd0KB8130_assertion description "[Familial CHARGE syndrome and the CHD7 gene: a recurrent missense mutation, intrafamilial recurrence and variability.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP1107.RA0yOen23ctQy2g05gT4dK6Ze70gZetvXRBxDxemd0KB8130_provenance.
• NP1112.RA9kDPmxfjthDXVXGCS61KlRJWNuj75wScOUBIAMuwvb8130_assertion description "[Homozygosity for a CHEK2*1100delC mutation identified in familial colorectal cancer does not lead to a severe clinical phenotype.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP1112.RA9kDPmxfjthDXVXGCS61KlRJWNuj75wScOUBIAMuwvb8130_provenance.
• NP1118.RA6h4Fs7PvDem-t_-PvjiM_y6kFxKk3tBaoGR9mR1QklI130_assertion description "[Studying families with a variant form of the disorder (DURS2-DRS), we have identified causative heterozygous missense mutations in CHN1, a gene on chromosome 2q31 that encodes alpha2-chimaerin, a Rac guanosine triphosphatase-activating protein (RacGAP) signaling protein previously implicated in the pathfinding of corticospinal axons in mice.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP1118.RA6h4Fs7PvDem-t_-PvjiM_y6kFxKk3tBaoGR9mR1QklI130_provenance.
• NP1120.RAyx5bSM9gqochvHVeUlyPH6-52FFU_cM8YWgkYoL5phg130_assertion description "[Mutations in different functional domains of the human muscle acetylcholine receptor alpha subunit in patients with the slow-channel congenital myasthenic syndrome.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP1120.RAyx5bSM9gqochvHVeUlyPH6-52FFU_cM8YWgkYoL5phg130_provenance.
• NP1121.RA7rWVlj12f4NJ4Ewq6JAgUmSP_WkvEzoCxEPhrtqC4eg130_assertion description "[New mutations in acetylcholine receptor subunit genes reveal heterogeneity in the slow-channel congenital myasthenic syndrome.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP1121.RA7rWVlj12f4NJ4Ewq6JAgUmSP_WkvEzoCxEPhrtqC4eg130_provenance.
• NP1131.RAz6GQcxpW_Jtr2DqIaQSwTM_yfXSjXf7U5GnFY0o8Kuw130_assertion description "[A beta-subunit mutation in the acetylcholine receptor channel gate causes severe slow-channel syndrome.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP1131.RAz6GQcxpW_Jtr2DqIaQSwTM_yfXSjXf7U5GnFY0o8Kuw130_provenance.
• NP1135.RA46jpCAZ8zLUIzcE6SySzvFnvP6dskzAXee2vR-JmvLE130_assertion description "[Novel delta subunit mutation in slow-channel syndrome causes severe weakness by novel mechanisms.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP1135.RA46jpCAZ8zLUIzcE6SySzvFnvP6dskzAXee2vR-JmvLE130_provenance.
• NP1148.RA7x4Cqmj-JLslz3Vp-nV_Bh-2a0Gthn-lWKuqhZNm1hY130_assertion description "[Mutations in the embryonal subunit of the acetylcholine receptor (CHRNG) cause lethal and Escobar variants of multiple pterygium syndrome.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP1148.RA7x4Cqmj-JLslz3Vp-nV_Bh-2a0Gthn-lWKuqhZNm1hY130_provenance.
• NP1155.RA9HreFlnegmXKcmz111tGqDLem-JdMCb-he2SQPi6a7Q130_assertion description "[We screened the CHST6 gene for mutations in Indian families with MCD, in order to determine the range of pathogenic mutations.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP1155.RA9HreFlnegmXKcmz111tGqDLem-JdMCb-he2SQPi6a7Q130_provenance.
• NP1158.RA8-o5S_Zy9HDzp5KolByIb40sZA3hxRGW0Rd54cDz1cc130_assertion description "[Mutations identified in the CHST6 gene cosegregated with the disease phenotype in all but one family studied and thus caused MCD.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP1158.RA8-o5S_Zy9HDzp5KolByIb40sZA3hxRGW0Rd54cDz1cc130_provenance.
• NP1161.RA97LikUhURZXBp8jUjP_Xv0mO1ZGXn3-mtMhD4MISEgA130_assertion description "[Novel CHST6 nonsense and missense mutations responsible for macular corneal dystrophy.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP1161.RA97LikUhURZXBp8jUjP_Xv0mO1ZGXn3-mtMhD4MISEgA130_provenance.
• NP1164.RAwG_Wac1CjUVg5PfdWakyaeS-YCwh_z1MG4omMNmIfts130_assertion description "[Mutation in the class II trans-activator leading to a mild immunodeficiency.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP1164.RAwG_Wac1CjUVg5PfdWakyaeS-YCwh_z1MG4omMNmIfts130_provenance.
• NP1174.RAzvxaVxEhr1wbnvmxVMCW7mPhaykq9Yq8vmaZ1U0bmCQ130_assertion description "[Nonsense and missense mutations of the muscle chloride channel gene in patients with myotonia congenita.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP1174.RAzvxaVxEhr1wbnvmxVMCW7mPhaykq9Yq8vmaZ1U0bmCQ130_provenance.
• NP1176.RA8fr350AFV3a9kVI4J7c0D-sMQSIv1wFLUlb6jY2Ti6I130_assertion description "[Mutations in the gene encoding this chloride channel (CLCN1) are responsible for both human purely myotonic disorders, autosomal recessive generalized myotonia (Becker's disease, GM) and autosomal dominant myotonia congenita (Thomsen's disease, MC).]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP1176.RA8fr350AFV3a9kVI4J7c0D-sMQSIv1wFLUlb6jY2Ti6I130_provenance.
• NP1179.RA4UTpDaBcNIyrV1Ovdx77up2mhqoOEVHKY0ZO5APVcMw130_assertion description "[Mutations within CLCN1, the gene encoding the major skeletal muscle chloride channel, cause either dominant Thomsen disease or recessive Becker-type myotonia, which are sometimes difficult to discriminate, because of reduced penetrance or lower clinical expressivity in females.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP1179.RA4UTpDaBcNIyrV1Ovdx77up2mhqoOEVHKY0ZO5APVcMw130_provenance.
• NP1182.RA7rj6p3U9gSd6yUFDX_XeARJTduODHmNVUnuQ_Htxx5U130_assertion description "[Myotonia levior is a chloride channel disorder.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP1182.RA7rj6p3U9gSd6yUFDX_XeARJTduODHmNVUnuQ_Htxx5U130_provenance.
• NP1185.RA3k4zoq8eiyzwjqttGYUlTenXchcV1ywqt39DiEDfykU130_assertion description "[Multimeric structure of ClC-1 chloride channel revealed by mutations in dominant myotonia congenita (Thomsen).]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP1185.RA3k4zoq8eiyzwjqttGYUlTenXchcV1ywqt39DiEDfykU130_provenance.
• NP1186.RAwo1kCt6Pwb6sHzzv6JgWjpvjmz74tDSMymafw0yz614130_assertion description "[Characterization of Dent's disease mutations of CLC-5 reveals a correlation between functional and cell biological consequences and protein structure.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP1186.RAwo1kCt6Pwb6sHzzv6JgWjpvjmz74tDSMymafw0yz614130_provenance.
• NP1187.RA4K0GGAh3UmaK4ImE0-aqurkdwffamV0e2tbdXM8n7a4130_assertion description "[Novel CLCN5 mutations in patients with Dent's disease result in altered ion currents or impaired exchanger processing.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP1187.RA4K0GGAh3UmaK4ImE0-aqurkdwffamV0e2tbdXM8n7a4130_provenance.
• NP1188.RA7qHo8DJwLN1n6ithQqJ33wSH4FCQofFdmuDf0m3g7S8130_assertion description "[Characterisation of renal chloride channel, CLCN5, mutations in hypercalciuric nephrolithiasis (kidney stones) disorders.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP1188.RA7qHo8DJwLN1n6ithQqJ33wSH4FCQofFdmuDf0m3g7S8130_provenance.
• NP1190.RAzkiYtrKUYVJ5fd7XziPUbnnTNyzSOQxb-MYa97vTXSE130_assertion description "[Heterogeneity in the processing of CLCN5 mutants related to Dent disease.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP1190.RAzkiYtrKUYVJ5fd7XziPUbnnTNyzSOQxb-MYa97vTXSE130_provenance.
• NP1192.RA8IM-SksBvrf5EbEQt7huyilQ-qYKDVbq1KqCXe1dD5w130_assertion description "[A missense mutation in the chloride/proton ClC-5 antiporter gene results in increased expression of an alternative mRNA form that lacks exons 10 and 11. Identification of seven new CLCN5 mutations in patients with Dent's disease.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP1192.RA8IM-SksBvrf5EbEQt7huyilQ-qYKDVbq1KqCXe1dD5w130_provenance.
• NP1195.RAxSTQPdX2jg9_36ViE9hl3_vpM7oGQZAshMkyDSIdPI0130_assertion description "[A common molecular basis for three inherited kidney stone diseases.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP1195.RAxSTQPdX2jg9_36ViE9hl3_vpM7oGQZAshMkyDSIdPI0130_provenance.
• NP1203.RA5x_thjSIn3l-Bdap_oMEfeh-AqsGdrBDO7bqkHAPrQg130_assertion description "[Mutations in the chloride channel gene, CLCNKB, cause Bartter's syndrome type III.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP1203.RA5x_thjSIn3l-Bdap_oMEfeh-AqsGdrBDO7bqkHAPrQg130_provenance.
• NP1208.RA1J2fXsQCh_2fe5qftL_O1v4iOA3-REGuZ4dwp6WY9tw130_assertion description "[Mutations in the tight-junction gene claudin 19 (CLDN19) are associated with renal magnesium wasting, renal failure, and severe ocular involvement.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP1208.RA1J2fXsQCh_2fe5qftL_O1v4iOA3-REGuZ4dwp6WY9tw130_provenance.
• NP1210.RA2E8pxzj6FxmRJlEE893bBNKbJC8UH-_SKliHR6Ztt0s130_assertion description "[Batten disease (juvenile-onset neuronal ceroid lipofuscinosis [JNCL]) is an autosomal recessive condition characterized by accumulation of lipopigments (lipofuscin and ceroid) in neurons and other cell types.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP1210.RA2E8pxzj6FxmRJlEE893bBNKbJC8UH-_SKliHR6Ztt0s130_provenance.
• NP1212.RA7EqwkhCxUvS9ql6GzhQP438aD0xdN0u2B6OMnHlukDk130_assertion description "[Mutations in eight genes (PPT1/CLN1, TPP1/CLN2, CLN3, CLN5, CLN6, MFSD8/CLN7, CLN8) have been identified and several more are predicted to exist, including two provisionally named CLN4 and CLN9.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP1212.RA7EqwkhCxUvS9ql6GzhQP438aD0xdN0u2B6OMnHlukDk130_provenance.
• NP1214.RA25Xdyzmd9DhBWC5GSNglPp37h30VBxEvVNr6VLbF6hg130_assertion description "[The gene mutated in variant late-infantile neuronal ceroid lipofuscinosis (CLN6) and in nclf mutant mice encodes a novel predicted transmembrane protein.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP1214.RA25Xdyzmd9DhBWC5GSNglPp37h30VBxEvVNr6VLbF6hg130_provenance.
• NP1217.RAxAZYA0sytZuxAyZm7k1qhz01hWZ6Xg7SuexwjqB7UIM130_assertion description "[Mutations in CLN7/MFSD8 are a common cause of variant late-infantile neuronal ceroid lipofuscinosis.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP1217.RAxAZYA0sytZuxAyZm7k1qhz01hWZ6Xg7SuexwjqB7UIM130_provenance.
• NP1225.RA08vQzdPMkS4ZyxW5xKiMa8PscicJ0QDObQtaVh2rngc130_assertion description "[Mutations in a novel gene with transmembrane domains underlie Usher syndrome type 3.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP1225.RA08vQzdPMkS4ZyxW5xKiMa8PscicJ0QDObQtaVh2rngc130_provenance.
• NP1227.RA-Fl8BHDLppzxTXiwpEHjvQlZ01C5i8vip6VgdIfseT0130_assertion description "[Usher syndrome type III: revised genomic structure of the USH3 gene and identification of novel mutations.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP1227.RA-Fl8BHDLppzxTXiwpEHjvQlZ01C5i8vip6VgdIfseT0130_provenance.
• NP1229.RA_yiqfuHctNEUUxtAQAksyxr3EwqWqEFbbinEvYTIkzs130_assertion description "[Spectrum of USH2A mutations in Scandinavian patients with Usher syndrome type II.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP1229.RA_yiqfuHctNEUUxtAQAksyxr3EwqWqEFbbinEvYTIkzs130_provenance.
• NP1230.RA80L4vkUxJ0j-wJqELjLKLoOT1Zjm5gh2X3Jy7J1Qxhg130_assertion description "[CLRN1 mutations cause nonsyndromic retinitis pigmentosa.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP1230.RA80L4vkUxJ0j-wJqELjLKLoOT1Zjm5gh2X3Jy7J1Qxhg130_provenance.
• NP1233.RA5PjozimpQWKUiieoVgLhMqDxmnW65wrLKwHraanu_BE130_assertion description "[Mutations in CNGA3 impair trafficking or function of cone cyclic nucleotide-gated channels, resulting in achromatopsia.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP1233.RA5PjozimpQWKUiieoVgLhMqDxmnW65wrLKwHraanu_BE130_provenance.
• NP1237.RAzLmlYAY9pSqqLAK9iiefQ4GVO1rNq2DlzhyHV2BNAOs130_assertion description "[Segregation of a mutation in CNGB1 encoding the beta-subunit of the rod cGMP-gated channel in a family with autosomal recessive retinitis pigmentosa.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP1237.RAzLmlYAY9pSqqLAK9iiefQ4GVO1rNq2DlzhyHV2BNAOs130_provenance.
• NP1239.RAywBAEc8XLtE9BTqpy0fADZCJflBFOlPnQdfoJTvNh24130_assertion description "[Cone cGMP-gated channel mutations and clinical findings in patients with achromatopsia, macular degeneration, and other hereditary cone diseases.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP1239.RAywBAEc8XLtE9BTqpy0fADZCJflBFOlPnQdfoJTvNh24130_provenance.
• NP1240.RA3Mix5-QbjX2xihSp2OsPwvueIqEn1p4h9xKi2OAOwT0130_assertion description "[A frameshift insertion in the cone cyclic nucleotide gated cation channel causes complete achromatopsia in a consanguineous family from a rural isolate.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP1240.RA3Mix5-QbjX2xihSp2OsPwvueIqEn1p4h9xKi2OAOwT0130_provenance.
• NP1243.RA0sMWOfZb16y6zTQ9JIBnnIaKfJMPJwk6xuXrCC_0H_k130_assertion description "[CNNM2, encoding a basolateral protein required for renal Mg2+ handling, is mutated in dominant hypomagnesemia.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP1243.RA0sMWOfZb16y6zTQ9JIBnnIaKfJMPJwk6xuXrCC_0H_k130_provenance.
• NP1245.RA8E9WDfll28Wk-0OjyWOtWzoOiymkOlBLcK-Hb4MoRdU130_assertion description "[Given that CNNM4 is implicated in metal ion transport, cone-rod dystrophy and amelogenesis imperfecta may originate from abnormal ion homeostasis.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP1245.RA8E9WDfll28Wk-0OjyWOtWzoOiymkOlBLcK-Hb4MoRdU130_provenance.
• NP1246.RA1WiItFgh0MZPg0QHbihlb6aHuLIekvj1lvHNLnWxxUE130_assertion description "[A mutation in C2orf64 causes impaired cytochrome c oxidase assembly and mitochondrial cardiomyopathy.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP1246.RA1WiItFgh0MZPg0QHbihlb6aHuLIekvj1lvHNLnWxxUE130_provenance.
• NP1247.RA4IuTdMSvO18A-0n1sbrU5RZcZAHaswC-YeyK74981Po130_assertion description "[Sequence analysis of cochlin from DFNA9 patients identified five distinct single-amino-acid mutations within a conserved region (the LCCL domain) of cochlin.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP1247.RA4IuTdMSvO18A-0n1sbrU5RZcZAHaswC-YeyK74981Po130_provenance.
• NP1254.RA00Y-5oMKLnIYnEPzp2oQfsD7qDENCL0AwFHd1QwXyWU130_assertion description "[Fibrochondrogenesis results from mutations in the COL11A1 type XI collagen gene.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP1254.RA00Y-5oMKLnIYnEPzp2oQfsD7qDENCL0AwFHd1QwXyWU130_provenance.
• NP1257.RA7x4k2Ib9UtiKzNZk6A_OEySuOi0TQnrd8j9vUrHMp-8130_assertion description "[Heterozygous glycine substitution in the COL11A2 gene in the original patient with the Weissenbacher-Zweymller syndrome demonstrates its identity with heterozygous OSMED (nonocular Stickler syndrome).]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP1257.RA7x4k2Ib9UtiKzNZk6A_OEySuOi0TQnrd8j9vUrHMp-8130_provenance.
• NP1263.RA3jm0075uD8G6pmMSc6LRtesZzEoX7ND0OH9-cOIJrCI130_assertion description "[One caused a substitution of glycine 200 by valine at the N-terminus of D1 in OI type I/IV, lowering collagen stability by 50% at 34 degrees C. The other one was a substitution of valine 349 by phenylalanine at the C-terminus of D1 in OI type I, lowering collagen stability at 37.5 degrees C. Two other mutations, reported before, changed amino residues in D4.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP1263.RA3jm0075uD8G6pmMSc6LRtesZzEoX7ND0OH9-cOIJrCI130_provenance.
• NP1264.RA-0GOgSyIuBNQz8m9rCJmOlmR-mSIM3MvwKMWdCZfi8k130_assertion description "[Mutations were identified in nine COL1A1/COL1A2 associated with OI type I-IV genes by scanning with DHPLC.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP1264.RA-0GOgSyIuBNQz8m9rCJmOlmR-mSIM3MvwKMWdCZfi8k130_provenance.
• NP1268.RA0cQ2LR4mI5ByV2eL8IyANtMyjlDmi75Fw-4h9jjGzOs130_assertion description "[Gly85 to Val substitution in pro alpha 1(I) chain causes mild osteogenesis imperfecta and introduces a susceptibility to protease digestion.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP1268.RA0cQ2LR4mI5ByV2eL8IyANtMyjlDmi75Fw-4h9jjGzOs130_provenance.

• first
• previous
• next