Works matching IS 00099163 AND DT 2019 AND VI 96 AND IP 6

Results: 16

Front Cover.

Published in:

Clinical Genetics, 2019, v. 96, n. 6, p. i, doi. 10.1111/cge.13672

By:

Rao, Man;
Guo, Guangran;
Li, Mengmeng;
Chen, Shi;
Chen, Kai;
Chen, Xiao;
Song, Jiangping;
Hu, Shengshou

Publication type:

Article

A novel homozygous CFAP65 mutation in humans causes male infertility with multiple morphological abnormalities of the sperm flagella.

Published in:

Clinical Genetics, 2019, v. 96, n. 6, p. 541, doi. 10.1111/cge.13644

By:

Zhang, Xueguang;
Shen, Ying;
Wang, Xiang;
Yuan, Guiping;
Zhang, Chaoliang;
Yang, Yihong

Publication type:

Article

Familial pancreatic adenocarcinoma: A retrospective analysis of germline genetic testing in a French multicentre cohort.

Published in:

Clinical Genetics, 2019, v. 96, n. 6, p. 579, doi. 10.1111/cge.13629

By:

Schwartz, Mathias;
Korenbaum, Clement;
Benfoda, Meriem;
Mary, Mickael;
Colas, Chrystelle;
Coulet, Florence;
Parrin, Melissa;
Jonveaux, Philippe;
Ingster, Olivier;
Granier, Sandra;
De Mestier, Louis;
Cros, Jerome;
Riffault, Angelique;
Muller, Marie;
Levy, Philippe;
Rebours, Vinciane;
Greenhalf, William;
Soufir, Nadem;
Hammel, Pascal

Publication type:

Article

The genome empowerment scale: An assessment of parental empowerment in families with undiagnosed disease.

Published in:

Clinical Genetics, 2019, v. 96, n. 6, p. 521, doi. 10.1111/cge.13635

By:

McConkie‐Rosell, Allyn;
Schoch, Kelly;
Sullivan, Jennifer;
Cope, Heidi;
Spillmann, Rebecca;
Palmer, Christina G.S.;
Pena, Loren;
Jiang, Yong‐Hui;
Daniels, Nicole;
Walley, Nicole;
Tan, Khoon G.;
Hooper, Stephen R.;
Shashi, Vandana

Publication type:

Article

Novel mutations in DPM3 cause dystroglycanopathy with central nervous system involvement.

Published in:

Clinical Genetics, 2019, v. 96, n. 6, p. 590, doi. 10.1111/cge.13634

By:

Fu, Jun;
Ma, Mingming;
Song, Jia;
Pang, Mi;
Yang, Liang;
Li, Gang;
Zhang, Jiewen

Publication type:

Article

Targeted panel sequencing in pediatric primary cardiomyopathy supports a critical role of TNNI3.

Published in:

Clinical Genetics, 2019, v. 96, n. 6, p. 549, doi. 10.1111/cge.13645

By:

Kühnisch, Jirko;
Herbst, Christopher;
Al‐Wakeel‐Marquard, Nadya;
Dartsch, Josephine;
Holtgrewe, Manuel;
Baban, Anwar;
Mearini, Giulia;
Hardt, Juliane;
Kolokotronis, Konstantinos;
Gerull, Brenda;
Carrier, Lucie;
Beule, Dieter;
Schubert, Stephan;
Messroghli, Daniel;
Degener, Franziska;
Berger, Felix;
Klaassen, Sabine

Publication type:

Article

The activating p.Ser466Arg change in STAT1 causes a peculiar phenotype with features of interferonopathies.

Published in:

Clinical Genetics, 2019, v. 96, n. 6, p. 585, doi. 10.1111/cge.13632

By:

Stellacci, Emilia;
Moneta, Gian M.;
Bruselles, Alessandro;
Barresi, Sabina;
Pizzi, Simone;
Torre, Giuliano;
De Benedetti, Fabrizio;
Tartaglia, Marco;
Insalaco, Antonella

Publication type:

Article

The homozygous variant c.245G > A/p.G82D in PNPLA2 is associated with arrhythmogenic cardiomyopathy phenotypic manifestations.

Published in:

Clinical Genetics, 2019, v. 96, n. 6, p. 532, doi. 10.1111/cge.13642

By:

Rao, Man;
Guo, Guangran;
Li, Mengmeng;
Chen, Shi;
Chen, Kai;
Chen, Xiao;
Song, Jiangping;
Hu, Shengshou

Publication type:

Article

Novel variant p.E269K confirms causative role of PLS1 mutations in autosomal dominant hearing loss.

Published in:

Clinical Genetics, 2019, v. 96, n. 6, p. 575, doi. 10.1111/cge.13626

By:

Diaz‐Horta, Oscar;
Bademci, Guney;
Tokgoz‐Yilmaz, Suna;
Guo, Shengru;
Zafeer, Faraz;
Sineni, Claire J.;
Duman, Duygu;
Farooq, Amjad;
Tekin, Mustafa

Publication type:

Article

Issue Information ‐ Editorial Board.

Published in:: Clinical Genetics, 2019, v. 96, n. 6, p. 483, doi. 10.1111/cge.13404
Publication type:: Article

A homozygous missense variant in CHRM3 associated with familial urinary bladder disease.

Published in:

Clinical Genetics, 2019, v. 96, n. 6, p. 515, doi. 10.1111/cge.13631

By:

Beaman, Glenda M.;
Galatà, Gabriella;
Teik, Keng W.;
Urquhart, Jill E.;
Aishah, Ali;
O'Sullivan, James;
Bhaskar, Sanjeev S.;
Wood, Katherine A.;
Thomas, Huw B.;
O'Keefe, Raymond T.;
Woolf, Adrian S.;
Stuart, Helen M.;
Newman, William G.

Publication type:

Article

Reevaluation of genetic variants previously associated with arrhythmogenic right ventricular cardiomyopathy integrating population‐based cohorts and proteomics data.

Published in:

Clinical Genetics, 2019, v. 96, n. 6, p. 506, doi. 10.1111/cge.13621

By:

Ye, Johan Z.;
Delmar, Mario;
Lundby, Alicia;
Olesen, Morten S.

Publication type:

Article

Speech, language, and feeding phenotypes of SATB2‐associated syndrome.

Published in:

Clinical Genetics, 2019, v. 96, n. 6, p. 485, doi. 10.1111/cge.13619

By:

Thomason, Ashlen;
Pankey, Emily;
Nutt, Beth;
Caffrey, Aisling R.;
Zarate, Yuri A.

Publication type:

Article

Whole exome and targeted gene sequencing to detect pathogenic recessive variants in early onset cerebellar ataxia.

Published in:

Clinical Genetics, 2019, v. 96, n. 6, p. 566, doi. 10.1111/cge.13625

By:

Shakya, Sunil;
Kumari, Renu;
Suroliya, Varun;
Tyagi, Nishu;
Joshi, Aditi;
Garg, Ajay;
Singh, Inder;
Kalikavil Puthanveedu, Divya;
Cherian, Ajith;
Mukerji, Mitali;
Srivastava, Achal K.;
Faruq, Mohammed

Publication type:

Article

Meckel syndrome: Clinical and mutation profile in six fetuses.

Published in:

Clinical Genetics, 2019, v. 96, n. 6, p. 560, doi. 10.1111/cge.13623

By:

Radhakrishnan, Periyasamy;
Nayak, Shalini S.;
Shukla, Anju;
Lindstrand, Anna;
Girisha, Katta M.

Publication type:

Article

MAGEL2‐related disorders: A study and case series.

Published in:

Clinical Genetics, 2019, v. 96, n. 6, p. 493, doi. 10.1111/cge.13620

By:

Patak, Jameson;
Gilfert, James;
Byler, Melissa;
Neerukonda, Vamsee;
Thiffault, Isabelle;
Cross, Laura;
Amudhavalli, Shivarajan;
Pacio‐Miguez, Marta;
Palomares‐Bralo, Maria;
Garcia‐Minaur, Sixto;
Santos‐Simarro, Fernando;
Powis, Zoe;
Alcaraz, Wendy;
Tang, Sha;
Jurgens, Julie;
Barry, Brenda;
England, Eleina;
Engle, Elizabeth;
Hess, Jonathon;
Lebel, Robert R.

Publication type:

Article