Works matching IS 00099163 AND DT 2020 AND VI 98 AND IP 1

Results: 16

Deletions of specific exons of FHOD3 detected by next‐generation sequencing are associated with hypertrophic cardiomyopathy.

Published in:

Clinical Genetics, 2020, v. 98, n. 1, p. 86, doi. 10.1111/cge.13759

By:

Ochoa, Juan P.;
Lopes, Luis R.;
Perez‐Barbeito, Marlene;
Cazón‐Varela, Laura;
Torre‐Carpente, Maria M.;
Sonicheva‐Paterson, Natalia;
De Uña‐Iglesias, David;
Quinn, Ellen;
Kuzmina‐Krutetskaya, Svetlana;
Garrote, José A.;
Elliott, Perry M.;
Monserrat, Lorenzo

Publication type:

Article

PDCD6IP, encoding a regulator of the ESCRT complex, is mutated in microcephaly.

Published in:

Clinical Genetics, 2020, v. 98, n. 1, p. 80, doi. 10.1111/cge.13756

By:

Khan, Amjad;
Alaamery, Manal;
Massadeh, Salam;
Obaid, Abdulrahman;
Kashgari, Amna A.;
Walsh, Christopher A.;
Eyaid, Wafaa

Publication type:

Article

Further delineation of the female phenotype with KDM5C disease causing variants: 19 new individuals and review of the literature.

Published in:

Clinical Genetics, 2020, v. 98, n. 1, p. 43, doi. 10.1111/cge.13755

By:

Carmignac, Virginie;
Nambot, Sophie;
Lehalle, Daphné;
Callier, Patrick;
Moortgat, Stephanie;
Benoit, Valérie;
Ghoumid, Jamal;
Delobel, Bruno;
Smol, Thomas;
Thuillier, Caroline;
Zordan, Cécile;
Naudion, Sophie;
Bienvenu, Thierry;
Touraine, Renaud;
Ramond, Francis;
Zweier, Christiane;
Reis, André;
Kraus, Cornelia;
Nizon, Mathilde;
Cogné, Benjamin

Publication type:

Article

Comprehensive molecular analysis of 61 Egyptian families with hereditary nonsyndromic hearing loss.

Published in:

Clinical Genetics, 2020, v. 98, n. 1, p. 32, doi. 10.1111/cge.13754

By:

Budde, Birgit S.;
Aly, Maha Abdelgaber;
Mohamed, Mostafa R.;
Breß, Andreas;
Altmüller, Janine;
Motameny, Susanne;
Kawalia, Amit;
Thiele, Holger;
Konrad, Kathryn;
Becker, Christian;
Toliat, Mohammad R.;
Nürnberg, Gudrun;
Sayed, Eman Abdel Fattah;
Mohamed, Enass Sayed;
Pfister, Markus;
Nürnberg, Peter

Publication type:

Article

Kosaki overgrowth syndrome: A novel pathogenic variant in PDGFRB and expansion of the phenotype including cerebrovascular complications.

Published in:

Clinical Genetics, 2020, v. 98, n. 1, p. 19, doi. 10.1111/cge.13752

By:

Foster, Alison;
Chalot, Basile;
Antoniadi, Thalia;
Schaefer, Elise;
Keelagher, Rebecca;
Ryan, Gavin;
Thomas, Quentin;
Philippe, Christophe;
Bruel, Ange‐Line;
Sorlin, Arthur;
Thauvin‐Robinet, Christel;
Bardou, Marc;
Luu, Maxime;
Quenardelle, Veronique;
Wolff, Valerie;
Woodley, Jessica;
Vabres, Pierre;
Lim, Derek;
Igbokwe, Rebecca;
Joseph, Annie

Publication type:

Article

Genetic Consultations in the Newborn.

Published in:

Clinical Genetics, 2020, v. 98, n. 1, p. 104, doi. 10.1111/cge.13766

By:

Wan, Tania;
Chung, Brian H.Y.

Publication type:

Article

HNRNPH1‐related syndromic intellectual disability: Seven additional cases suggestive of a distinct syndromic neurodevelopmental syndrome.

Published in:

Clinical Genetics, 2020, v. 98, n. 1, p. 91, doi. 10.1111/cge.13765

By:

Reichert, Sara C.;
Li, Rachel;
Turner, Scott;
Jaarsveld, Richard H.;
Massink, Maarten P.G.;
Boogaard, Marie‐José H.;
Toro, Mireia;
Rodríguez‐Palmero, Agustí;
Fourcade, Stéphane;
Schlüter, Agatha;
Planas‐Serra, Laura;
Pujol, Aurora;
Iascone, Maria;
Maitz, Silvia;
Loong, Lucy;
Stewart, Helen;
De Franco, Elisa;
Ellard, Sian;
Frank, Julie;
Lewandowski, Raymond

Publication type:

Article

Complete resolution of epileptic spasms with vigabatrin in a patient with 3‐methylglutaconic aciduria caused by TIMM50 gene mutation.

Published in:

Clinical Genetics, 2020, v. 98, n. 1, p. 102, doi. 10.1111/cge.13763

By:

Mir, Ali;
Hadab, Safeya;
Sammak, Mohammed;
Alhazmi, Rami;
Housawi, Yousef;
Bashir, Shahid

Publication type:

Article

Epidermolysis bullosa with congenital absence of skin: Clinical and genetic characterization of a 23‐case series.

Published in:

Clinical Genetics, 2020, v. 98, n. 1, p. 99, doi. 10.1111/cge.13762

By:

Mariath, Luiza M.;
Santin, Juliana T.;
Frantz, Jeanine A.;
Doriqui, Maria J.R.;
Schuler‐Faccini, Lavínia;
Kiszewski, Ana E.

Publication type:

Article

ADAMTS19‐associated heart valve defects: Novel genetic variants consolidating a recognizable cardiac phenotype.

Published in:

Clinical Genetics, 2020, v. 98, n. 1, p. 56, doi. 10.1111/cge.13760

By:

Massadeh, Salam;
Alhashem, Amal;
Laar, Ingrid M.B.H.;
Alhabshan, Fahad;
Ordonez, Natalia;
Alawbathani, Salem;
Khan, Suliman;
Kabbani, Mohamed S.;
Chaikhouni, Farah;
Sheereen, Atia;
Almohammed, Iman;
Alghamdi, Bader;
Frohn‐Mulder, Ingrid;
Ahmad, Salim;
Beetz, Christian;
Bauer, Peter;
Wessels, Marja W.;
Alaamery, Manal;
Bertoli‐Avella, Aida M.

Publication type:

Article

VEGFA variants as prognostic markers for the retinopathy in pseudoxanthoma elasticum.

Published in:

Clinical Genetics, 2020, v. 98, n. 1, p. 74, doi. 10.1111/cge.13751

By:

De Vilder, Eva Y.G.;
Hosen, Mohammad J.;
Martin, Ludovic;
De Zaeytijd, Julie;
Leroy, Bart P.;
Ebran, Jean‐Marc;
Coucke, Paul J.;
De Paepe, Anne;
Vanakker, Olivier M.

Publication type:

Article

Overlapping phenotypes between SHORT and Noonan syndromes in patients with PTPN11 pathogenic variants.

Published in:

Clinical Genetics, 2020, v. 98, n. 1, p. 10, doi. 10.1111/cge.13746

By:

Ranza, Emmanuelle;
Guimier, Anne;
Verloes, Alain;
Capri, Yline;
Marques, Charles;
Auclair, Martine;
Mathieu‐Dramard, Michèle;
Morin, Gilles;
Thevenon, Julien;
Faivre, Laurence;
Thauvin‐Robinet, Christel;
Innes, A. Micheil;
Dyment, David A.;
Vigouroux, Corinne;
Amiel, Jeanne

Publication type:

Article

A novel homozygous variant in NLRP5 is associate with human early embryonic arrest in a consanguineous Chinese family.

Published in:

Clinical Genetics, 2020, v. 98, n. 1, p. 69, doi. 10.1111/cge.13744

By:

Xu, Yao;
Qian, Ying;
Liu, Yu;
Wang, Qiaofeng;
Wang, Rongxiang;
Zhou, Yiwen;
Zhang, Caixia;
Pang, Zhi;
Ye, Hongjuan;
Xue, Songguo;
Sun, Lihua

Publication type:

Article

A nonsense variant in NME5 causes human primary ciliary dyskinesia with radial spoke defects.

Published in:

Clinical Genetics, 2020, v. 98, n. 1, p. 64, doi. 10.1111/cge.13742

By:

Cho, Eun Hye;
Huh, Hee Jae;
Jeong, Inyoung;
Lee, Nam Yong;
Koh, Won‐Jung;
Park, Hae‐Chul;
Ki, Chang‐Seok

Publication type:

Article

DNA methylation changes in cystic fibrosis: Cause or consequence?

Published in:

Clinical Genetics, 2020, v. 98, n. 1, p. 3, doi. 10.1111/cge.13731

By:

Scott, Madeleine;
De Sario, Albertina

Publication type:

Article

Issue Information – Editorial Board.

Published in:: Clinical Genetics, 2020, v. 98, n. 1, p. 1, doi. 10.1111/cge.13573
Publication type:: Article