Works matching IS 00099163 AND DT 2018 AND VI 93 AND IP 2

Results: 34

Utility of genetics for risk stratification in pediatric hypertrophic cardiomyopathy.

Published in:

Clinical Genetics, 2018, v. 93, n. 2, p. 310, doi. 10.1111/cge.13157

By:

Mathew, J.;
Zahavich, L.;
Lafreniere‐Roula, M.;
Wilson, J.;
George, K.;
Benson, L.;
Bowdin, S.;
Mital, S.

Publication type:

Article

Identification of the first homozygous 1‐bp deletion in <italic>GDF9</italic> gene leading to primary ovarian insufficiency by using targeted massively parallel sequencing.

Published in:

Clinical Genetics, 2018, v. 93, n. 2, p. 408, doi. 10.1111/cge.13156

By:

França, M. M.;
Funari, M. F. A.;
Nishi, M. Y.;
Narcizo, A. M.;
Domenice, S.;
Costa, E. M. F.;
Lerario, A. M.;
Mendonca, B. B.

Publication type:

Article

Recessive mutations in NDUFA2 cause mitochondrial leukoencephalopathy.

Published in:

Clinical Genetics, 2018, v. 93, n. 2, p. 396, doi. 10.1111/cge.13126

By:

Perrier, S.;
Gauquelin, L.;
Tétreault, M.;
Tran, L. T.;
Webb, N.;
Srour, M.;
Mitchell, J. J.;
Brunel‐Guitton, C.;
Majewski, J.;
Long, V.;
Keller, S.;
Gambello, M. J.;
Simons, C.;
Care4Rare Canada Consortium;
Vanderver, A.;
Bernard, G.

Publication type:

Article

Biallelic mutations in <italic>FLNB</italic> cause a skeletal dysplasia with 46,XY gonadal dysgenesis by activating β‐catenin.

Published in:

Clinical Genetics, 2018, v. 93, n. 2, p. 412, doi. 10.1111/cge.13165

By:

Upadhyay, K.;
Loke, J.;
O, V.;
Taragin, B.;
Ostrer, H.

Publication type:

Article

Molecular analysis and genotype‐phenotype correlation of Diamond‐Blackfan anemia.

Published in:

Clinical Genetics, 2018, v. 93, n. 2, p. 320, doi. 10.1111/cge.13158

By:

Arbiv, O. A.;
Cuvelier, G.;
Klaassen, R. J.;
Fernandez, C. V.;
Robitaille, N.;
Steele, M.;
Breakey, V.;
Abish, S.;
Wu, J.;
Sinha, R.;
Silva, M.;
Goodyear, L.;
Jardine, L.;
Lipton, J. H.;
Corriveau‐Bourque, C.;
Brossard, J.;
Michon, B.;
Ghemlas, I.;
Waespe, N.;
Zlateska, B.

Publication type:

Article

Genetic profile and mutation spectrum of Leber congenital amaurosis in a larger Indian cohort using high throughput targeted re‐sequencing.

Published in:

Clinical Genetics, 2018, v. 93, n. 2, p. 329, doi. 10.1111/cge.13159

By:

Srikrupa, N. N.;
Srilekha, S.;
Sen, P.;
Arokiasamy, T.;
Meenakshi, S.;
Bhende, M.;
Kapur, S.;
Soumittra, N.

Publication type:

Article

Novel non‐neutral mitochondrial DNA mutations found in childhood acute lymphoblastic leukemia.

Published in:

Clinical Genetics, 2018, v. 93, n. 2, p. 275, doi. 10.1111/cge.13100

By:

Järviaho, T.;
Hurme‐Niiranen, A.;
Soini, H. K.;
Niinimäki, R.;
Möttönen, M.;
Savolainen, E.‐R.;
Hinttala, R.;
Harila‐Saari, A.;
Uusimaa, J.

Publication type:

Article

Clinical experience with a single‐nucleotide polymorphism‐based non‐invasive prenatal test for five clinically significant microdeletions.

Published in:

Clinical Genetics, 2018, v. 93, n. 2, p. 293, doi. 10.1111/cge.13098

By:

Martin, K.;
Iyengar, S.;
Kalyan, A.;
Lan, C.;
Simon, A. L.;
Stosic, M.;
Kobara, K.;
Ravi, H.;
Truong, T.;
Ryan, A.;
Demko, Z. P.;
Benn, P.

Publication type:

Article

Bone marrow failure syndrome caused by homozygous frameshift mutation in the ERCC6L2 gene.

Published in:

Clinical Genetics, 2018, v. 93, n. 2, p. 392, doi. 10.1111/cge.13125

By:

Järviaho, T.;
Halt, K.;
Hirvikoski, P.;
Moilanen, J.;
Möttönen, M.;
Niinimäki, R.

Publication type:

Article

Phenotypic spectrum associated with de novo mutations in QRICH1 gene.

Published in:

Clinical Genetics, 2018, v. 93, n. 2, p. 286, doi. 10.1111/cge.13096

By:

Ververi, A.;
Splitt, M.;
Dean, J. C. S.;
DDD Study;
Brady, A. F.

Publication type:

Article

Homozygous nonsense mutation in SCHIP1/IQCJ‐SCHIP1 causes a neurodevelopmental brain malformation syndrome.

Published in:

Clinical Genetics, 2018, v. 93, n. 2, p. 387, doi. 10.1111/cge.13122

By:

Elsaid, M. F.;
Chalhoub, N.;
Ben‐Omran, T.;
Kamel, H.;
AL Mureikhi, M.;
Ibrahim, K.;
Elizabeth Ross, M.;
Abdel Aleem, A. K.

Publication type:

Article

Issue Information ‐ Editorial Board.

Published in:: Clinical Genetics, 2018, v. 93, n. 2, p. 195, doi. 10.1111/cge.13109
Publication type:: Article

Whole‐exome sequencing is a valuable diagnostic tool for inherited peripheral neuropathies: Outcomes from a cohort of 50 families.

Published in:

Clinical Genetics, 2018, v. 93, n. 2, p. 301, doi. 10.1111/cge.13101

By:

Hartley, T.;
Wagner, J. D.;
Warman‐Chardon, J.;
Tétreault, M.;
Brady, L.;
Baker, S.;
Tarnopolsky, M.;
Bourque, P. R.;
Parboosingh, J. S.;
Smith, C.;
McInnes, B.;
Innes, A. M.;
Bernier, F.;
Curry, C. J.;
Yoon, G.;
Horvath, G. A.;
Bareke, E.;
Gillespie, M.;
FORGE Canada Consortium;
Care4Rare Canada Consortium

Publication type:

Article

Genetic characterization of GSD I in Serbian population revealed unexpectedly high incidence of GSD Ib and 3 novel SLC37A4 variants.

Published in:

Clinical Genetics, 2018, v. 93, n. 2, p. 350, doi. 10.1111/cge.13093

By:

Skakic, A.;
Djordjevic, M.;
Sarajlija, A.;
Klaassen, K.;
Tosic, N.;
Kecman, B.;
Ugrin, M.;
Spasovski, V.;
Pavlovic, S.;
Stojiljkovic, M.

Publication type:

Article

Phenotypic spectrum of mutations in IBA57, a candidate gene for cavitating leukoencephalopathy.

Published in:

Clinical Genetics, 2018, v. 93, n. 2, p. 235, doi. 10.1111/cge.13090

By:

Liu, M.;
Zhang, J.;
Zhang, Z.;
Zhou, L.;
Jiang, Y.;
Wang, J.;
Xiao, J.;
Wu, Y.

Publication type:

Article

Next generation phenotyping in Emanuel and Pallister‐Killian syndrome using computer‐aided facial dysmorphology analysis of 2D photos.

Published in:

Clinical Genetics, 2018, v. 93, n. 2, p. 378, doi. 10.1111/cge.13087

By:

Liehr, T.;
Acquarola, N.;
Pyle, K.;
St‐Pierre, S.;
Rinholm, M.;
Bar, O.;
Wilhelm, K.;
Schreyer, I.

Publication type:

Article

Extension of the phenotype of biallelic loss‐of‐function mutations in SLC25A46 to the severe form of pontocerebellar hypoplasia type I.

Published in:

Clinical Genetics, 2018, v. 93, n. 2, p. 255, doi. 10.1111/cge.13084

By:

Braunisch, M. C.;
Gallwitz, H.;
Abicht, A.;
Diebold, I.;
Holinski‐Feder, E.;
Van Maldergem, L.;
Lammens, M.;
Kovács‐Nagy, R.;
Alhaddad, B.;
Strom, T. M.;
Meitinger, T.;
Senderek, J.;
Rudnik‐Schöneborn, S.;
Haack, T. B.

Publication type:

Article

A genetic epidemiology study of congenital adrenal hyperplasia in Italy.

Published in:

Clinical Genetics, 2018, v. 93, n. 2, p. 223, doi. 10.1111/cge.13078

By:

Gialluisi, A.;
Menabò, S.;
Baldazzi, L.;
Casula, L.;
Meloni, A.;
Farci, M. C.;
Mariotti, S.;
Balestrino, L.;
Ortolano, R.;
Murru, S.;
Carcassi, C.;
Loche, S.;
Balsamo, A.;
Romeo, G.

Publication type:

Article

Fragile X syndrome: An overview and update of the FMR1 gene.

Published in:

Clinical Genetics, 2018, v. 93, n. 2, p. 197, doi. 10.1111/cge.13075

By:

Mila, M.;
Alvarez‐Mora, M. I.;
Madrigal, I.;
Rodriguez‐Revenga, L.

Publication type:

Article

Further delineation of the phenotype caused by biallelic variants in the WDR4 gene.

Published in:

Clinical Genetics, 2018, v. 93, n. 2, p. 374, doi. 10.1111/cge.13074

By:

Trimouille, A.;
Lasseaux, E.;
Barat, P.;
Deiller, C.;
Drunat, S.;
Rooryck, C.;
Arveiler, B.;
Lacombe, D.

Publication type:

Article

Large‐scale study of clinical and biochemical characteristics of Chinese patients diagnosed with Krabbe disease.

Published in:

Clinical Genetics, 2018, v. 93, n. 2, p. 248, doi. 10.1111/cge.13071

By:

Zhao, S.;
Zhan, X.;
Wang, Y.;
Ye, J.;
Han, L.;
Qiu, W.;
Gao, X.;
Gu, X.;
Zhang, H.

Publication type:

Article

Novel biallelic mutations in the PNPT1 gene encoding a mitochondrial‐RNA‐import protein PNPase cause delayed myelination.

Published in:

Clinical Genetics, 2018, v. 93, n. 2, p. 242, doi. 10.1111/cge.13068

By:

Sato, R.;
Arai‐Ichinoi, N.;
Kikuchi, A.;
Matsuhashi, T.;
Numata‐Uematsu, Y.;
Uematsu, M.;
Fujii, Y.;
Murayama, K.;
Ohtake, A.;
Abe, T.;
Kure, S.

Publication type:

Article

Identification of novel BCL11A variants in patients with epileptic encephalopathy: Expanding the phenotypic spectrum.

Published in:

Clinical Genetics, 2018, v. 93, n. 2, p. 368, doi. 10.1111/cge.13067

By:

Yoshida, M.;
Nakashima, M.;
Okanishi, T.;
Kanai, S.;
Fujimoto, A.;
Itomi, K.;
Morimoto, M.;
Saitsu, H.;
Kato, M.;
Matsumoto, N.;
Chiyonobu, T.

Publication type:

Article

Novel biallelic SZT2 mutations in 3 cases of early‐onset epileptic encephalopathy.

Published in:

Clinical Genetics, 2018, v. 93, n. 2, p. 266, doi. 10.1111/cge.13061

By:

Tsuchida, N.;
Nakashima, M.;
Miyauchi, A.;
Yoshitomi, S.;
Kimizu, T.;
Ganesan, V.;
Teik, K. W.;
Ch'ng, G.‐S.;
Kato, M.;
Mizuguchi, T.;
Takata, A.;
Miyatake, S.;
Miyake, N.;
Osaka, H.;
Yamagata, T.;
Nakajima, H.;
Saitsu, H.;
Matsumoto, N.

Publication type:

Article

A familial study of twins with severe asthenozoospermia identified a homozygous SPAG17 mutation by whole‐exome sequencing.

Published in:

Clinical Genetics, 2018, v. 93, n. 2, p. 345, doi. 10.1111/cge.13059

By:

Xu, X.;
Sha, Y.‐W.;
Mei, L.‐B.;
Ji, Z.‐Y.;
Qiu, P.‐p.;
Ji, H.;
Li, P.;
Wang, T.;
Li, L.

Publication type:

Article

Disruption of YWHAE gene at 17p13.3 causes learning disabilities and brain abnormalities.

Published in:

Clinical Genetics, 2018, v. 93, n. 2, p. 365, doi. 10.1111/cge.13056

By:

Noor, A.;
Bogatan, S.;
Watkins, N.;
Meschino, W. S.;
Stavropoulos, D. J.

Publication type:

Article

WDR45B‐related intellectual disability, spastic quadriplegia, epilepsy, and cerebral hypoplasia: A consistent neurodevelopmental syndrome.

Published in:

Clinical Genetics, 2018, v. 93, n. 2, p. 360, doi. 10.1111/cge.13054

By:

Suleiman, J.;
Allingham‐Hawkins, D.;
Hashem, M.;
Shamseldin, H. E.;
Alkuraya, F. S.;
El‐Hattab, A. W.

Publication type:

Article

The association of severe encephalopathy and question mark ear is highly suggestive of loss of MEF2C function.

Published in:

Clinical Genetics, 2018, v. 93, n. 2, p. 356, doi. 10.1111/cge.13046

By:

Gordon, C. T.;
Tessier, A.;
Demir, Z.;
Goldenberg, A.;
Oufadem, M.;
Voisin, N.;
Pingault, V.;
Bienvenu, T.;
Lyonnet, S.;
de Pontual, L.;
Amiel, J.

Publication type:

Article

PDX1 ‐MODY and dorsal pancreatic agenesis: New phenotype of a rare disease.

Published in:

Clinical Genetics, 2018, v. 93, n. 2, p. 382, doi. 10.1111/cge.13044

By:

Caetano, L. A.;
Santana, L. S.;
Costa‐Riquetto, A. D.;
Lerario, A. M.;
Nery, M.;
Nogueira, G. F.;
Ortega, C. D.;
Rocha, M. S.;
Jorge, A. A. L.;
Teles, M. G.

Publication type:

Article

Metformin as targeted treatment in fragile X syndrome.

Published in:

Clinical Genetics, 2018, v. 93, n. 2, p. 216, doi. 10.1111/cge.13039

By:

Dy, A. B. C.;
Tassone, F.;
Eldeeb, M.;
Salcedo‐Arellano, M. J.;
Tartaglia, N.;
Hagerman, R.

Publication type:

Article

Whole‐exome sequencing identifies a homozygous donor splice‐site mutation in STAG3 that causes primary ovarian insufficiency.

Published in:

Clinical Genetics, 2018, v. 93, n. 2, p. 340, doi. 10.1111/cge.13034

By:

He, W.‐B.;
Banerjee, S.;
Meng, L.‐L.;
Du, J.;
Gong, F.;
Huang, H.;
Zhang, X.‐X.;
Wang, Y.‐Y.;
Lu, G.‐X.;
Lin, G.;
Tan, Y.‐Q.

Publication type:

Article

Galactose‐1‐phosphate uridyltransferase deficiency: A literature review of the putative mechanisms of short and long‐term complications and allelic variants.

Published in:

Clinical Genetics, 2018, v. 93, n. 2, p. 206, doi. 10.1111/cge.13030

By:

Viggiano, E.;
Marabotti, A.;
Politano, L.;
Burlina, A.

Publication type:

Article

Clinical spectrum of Kabuki‐like syndrome caused by HNRNPK haploinsufficiency.

Published in:

Clinical Genetics, 2018, v. 93, n. 2, p. 401, doi. 10.1111/cge.13029

By:

Dentici, Maria Lisa;
Barresi, Sabina;
Niceta, Marcello;
Pantaleoni, Francesca;
Pizzi, Simone;
Dallapiccola, Bruno;
Tartaglia, Marco;
Digilio, Maria Cristina

Publication type:

Article

Comprehensive molecular screening strategy of OCLN in band‐like calcification with simplified gyration and polymicrogyria.

Published in:

Clinical Genetics, 2018, v. 93, n. 2, p. 228, doi. 10.1111/cge.13025

By:

Jenkinson, E. M.;
Livingston, J. H.;
O'Driscoll, M. C.;
Desguerre, I.;
Nabbout, R.;
Boddaert, N.;
Soares, G.;
Gonçalves da Rocha, M.;
D'Arrigo, S.;
Rice, G. I.;
Crow, Y. J.

Publication type:

Article