Works matching IS 00099163 AND DT 2021 AND VI 100 AND IP 4

Results: 18

Exome sequencing of familial adenomatous polyposis‐like individuals identifies both known and novel causative genes.

Published in:

Clinical Genetics, 2021, v. 100, n. 4, p. 478, doi. 10.1111/cge.14029

By:

Xavier, Alexandre;
Scott, Rodney J.;
Talseth‐Palmer, Bente

Publication type:

Article

A C‐terminal BCOR nonsense variant in a male patient expands the phenotypic spectrum of BCOR‐associated syndromic microphthalmia.

Published in:

Clinical Genetics, 2021, v. 100, n. 4, p. 489, doi. 10.1111/cge.14034

By:

Schwaibold, Eva Maria Christina;
Brugger, Melanie;
Wagner, Matias

Publication type:

Article

A 24‐generation‐old founder mutation impairs splicing of RBBP8 in Pakistani families affected with Jawad syndrome.

Published in:

Clinical Genetics, 2021, v. 100, n. 4, p. 486, doi. 10.1111/cge.14028

By:

Kaygusuz, Emrah;
Khayyat, Arwa Ishaq A.;
Abdullah, Uzma;
Budde, Birgit Susanne;
Asif, Maria;
Ahmed, Ilyas;
Makhdoom, Ehtisham Ul Haq;
Sur‐Erdem, Ilknur;
Baig, Jamshaid Mahmood;
Khan, Muhammad Mohsin Ali;
Toliat, Mohammad Reza;
Becker, Christian;
Anwar, Haseeb;
Iqbal, Maria;
Fischer, Sarah;
Jameel, Muhammad;
Sher, Muhammad;
Tariq, Muhammad;
Malik, Naveed Altaf;
Noegel, Angelika A.

Publication type:

Article

Triploid pregnancy–Clinical implications.

Published in:

Clinical Genetics, 2021, v. 100, n. 4, p. 368, doi. 10.1111/cge.14003

By:

Massalska, Diana;
Bijok, Julia;
Kucińska‐Chahwan, Anna;
Zimowski, Janusz Grzegorz;
Ozdarska, Katarzyna;
Panek, Grzegorz;
Roszkowski, Tomasz

Publication type:

Article

Knowledge, views and expectations for cancer polygenic risk testing in clinical practice: A cross‐sectional survey of health professionals.

Published in:

Clinical Genetics, 2021, v. 100, n. 4, p. 430, doi. 10.1111/cge.14025

By:

Smit, Amelia K.;
Sharman, Ashleigh R.;
Espinoza, David;
Wallingford, Courtney;
Young, Mary‐Anne;
Dunlop, Kate;
Tiller, Jane;
Newson, Ainsley J.;
Meiser, Bettina;
Cust, Anne E.;
Yanes, Tatiane

Publication type:

Article

CHEDDA syndrome is an underrecognized neurodevelopmental disorder with a highly restricted ATN1 mutation spectrum.

Published in:

Clinical Genetics, 2021, v. 100, n. 4, p. 468, doi. 10.1111/cge.14022

By:

Palmer, Elizabeth E.;
Whitton, Chloe;
Hashem, Mais O.;
Clark, Robin D.;
Ramanathan, Subhadra;
Starr, Lois J.;
Velasco, Danita;
De Dios, John Karl;
Singh, Emily;
Cormier‐Daire, Valerie;
Chopra, Maya;
Rodan, Lance H.;
Nellaker, Christoffer;
Lakhani, Shenela;
Mallack, Eric J.;
Panzer, Karin;
Sidhu, Alpa;
Wentzensen, Ingrid M.;
Lacombe, Didier;
Michaud, Vincent

Publication type:

Article

The first two non‐Finnish HYLS1 variants: Expanding the phenotypic spectrum of hydrolethalus syndrome.

Published in:

Clinical Genetics, 2021, v. 100, n. 4, p. 462, doi. 10.1111/cge.14021

By:

Ghesh, Leïla;
Musquer, Marie Denis;
Devisme, Louise;
Stichelbout, Morgane;
Boutaud, Lucile;
Elkhartoufi, Nadia;
Vaast, Pascal;
Boute, Odile;
Riteau, Anne‐Sophie;
Le Vaillant, Claudine;
Winer, Norbert;
Joubert, Madeleine;
Bezieau, Stéphane;
Thomas, Sophie;
Attie‐Bitach, Tania;
Beneteau, Claire

Publication type:

Article

Tenorio syndrome: Description of 14 novel cases and review of the clinical and molecular features.

Published in:

Clinical Genetics, 2021, v. 100, n. 4, p. 405, doi. 10.1111/cge.14020

By:

Tenorio‐Castaño, Jair Antonio;
Arias, Pedro;
Fernández‐Jaén, Alberto;
Lay‐Son, Guillermo;
Bueno‐Lozano, Gloria;
Bayat, Allan;
Faivre, Laurence;
Gallego, Natalia;
Ramos, Sergio;
Butler, Kameryn M.;
Morel, Chantal;
Hadjiyannakis, Stasia;
Lespinasse, James;
Tran‐Mau‐Them, Frederic;
Santos‐Simarro, Fernando;
Pinson, Lucile;
Martínez‐Monseny, Antonio Federico;
O'Callaghan Cord, María del Mar;
Álvarez, Sara;
Stolerman, Elliot S.

Publication type:

Article

Biallelic mutations in KATNAL2 cause male infertility due to oligo‐astheno‐teratozoospermia.

Published in:

Clinical Genetics, 2021, v. 100, n. 4, p. 376, doi. 10.1111/cge.14009

By:

Wei, Xiaoli;
Liu, Wensheng;
Zhu, Xingshen;
Li, Youzhu;
Zhang, Xiaoya;
Chen, Jing;
Isachenko, Vladimir;
Sha, Yanwei;
Lu, Zhongxian

Publication type:

Article

ZMYND11 variants are a novel cause of centrotemporal and generalised epilepsies with neurodevelopmental disorder.

Published in:

Clinical Genetics, 2021, v. 100, n. 4, p. 412, doi. 10.1111/cge.14023

By:

Oates, Stephanie;
Absoud, Michael;
Goyal, Sushma;
Bayley, Sophie;
Baulcomb, Jennifer;
Sims, Annemarie;
Riddett, Amy;
Allis, Katrina;
Brasch‐Andersen, Charlotte;
Balasubramanian, Meena;
Bai, Renkui;
Callewaert, Bert;
Hüffmeier, Ulrike;
Le Duc, Diana;
Radtke, Maximilian;
Korff, Christian;
Kennedy, Joanna;
Low, Karen;
Møller, Rikke S.;
Nielsen, Jens Erik Klint

Publication type:

Article

Inflammatory factors, genetic variants, and predisposition for preterm birth.

Published in:

Clinical Genetics, 2021, v. 100, n. 4, p. 357, doi. 10.1111/cge.14001

By:

Couceiro, Joana;
Matos, Irina;
Mendes, José João;
Baptista, Pedro V.;
Fernandes, Alexandra R.;
Quintas, Alexandre

Publication type:

Article

KRAS mutation identified in a patient with melorheostosis and extended lymphangiomatosis treated with sirolimus and trametinib.

Published in:

Clinical Genetics, 2021, v. 100, n. 4, p. 484, doi. 10.1111/cge.14018

By:

Lacasta‐Plasin, Clara;
Martinez‐Glez, Victor;
Rodriguez‐Laguna, Lara;
Cervantes‐Pardo, Antonio;
Martinez‐Menchon, Teresa;
Sanchez‐Jimenez, Regina;
Campos‐Dominguez, Minia

Publication type:

Article

Two cases of DCDC2‐related neonatal sclerosing cholangitis with developmental delay and literature review.

Published in:

Clinical Genetics, 2021, v. 100, n. 4, p. 447, doi. 10.1111/cge.14012

By:

Syryn, Hannes;
Hoorens, Anne;
Grammatikopoulos, Tassos;
Deheragoda, Maesha;
Symoens, Sofie;
Vande Velde, Saskia;
Van Biervliet, Stephanie;
Van Winckel, Myriam;
Verloo, Patrick;
Callewaert, Bert;
De Bruyne, Ruth

Publication type:

Article

Genotypic and phenotypic analysis in 51 Chinese patients with primary distal renal tubular acidosis.

Published in:

Clinical Genetics, 2021, v. 100, n. 4, p. 440, doi. 10.1111/cge.14011

By:

Guo, Wencong;
Song, Qijing;
Zhang, Ruixiao;
Xin, Qing;
Liu, Zhiying;
Lang, Yanhua;
Zhao, Xiangzhong;
Shao, Leping

Publication type:

Article

EPHA7 haploinsufficiency is associated with a neurodevelopmental disorder.

Published in:

Clinical Genetics, 2021, v. 100, n. 4, p. 396, doi. 10.1111/cge.14017

By:

Lévy, Jonathan;
Schell, Bérénice;
Nasser, Hala;
Rachid, Myriam;
Ruaud, Lyse;
Couque, Nathalie;
Callier, Patrick;
Faivre, Laurence;
Marle, Nathalie;
Engwerda, Aafke;
van Ravenswaaij‐Arts, Conny M. A.;
Plutino, Morgane;
Karmous‐Benailly, Houda;
Benech, Caroline;
Redon, Sylvia;
Boute, Odile;
Boudry Labis, Elise;
Rama, Mélanie;
Kuentz, Paul;
Assoumani, Jessica

Publication type:

Article

Expanding the phenotypic spectrum of FINCA (fibrosis, neurodegeneration, and cerebral angiomatosis) syndrome beyond infancy.

Published in:

Clinical Genetics, 2021, v. 100, n. 4, p. 453, doi. 10.1111/cge.14016

By:

Rapp, Christina K.;
Van Dijck, Ine;
Laugwitz, Lucia;
Boon, Mieke;
Briassoulis, George;
Ilia, Stavroula;
Kammer, Birgit;
Reu, Simone;
Hornung, Stefanie;
Buchert, Rebecca;
Sofan, Linda;
Froukh, Tawfiq;
Witters, Peter;
Rymen, Daisy;
Haack, Tobias B.;
Proesmans, Marijke;
Griese, Matthias

Publication type:

Article

Heterozygous HMGB1 loss‐of‐function variants are associated with developmental delay and microcephaly.

Published in:

Clinical Genetics, 2021, v. 100, n. 4, p. 386, doi. 10.1111/cge.14015

By:

Uguen, Kévin;
Krysiak, Kilannin;
Audebert‐Bellanger, Séverine;
Redon, Sylvia;
Benech, Caroline;
Viora‐Dupont, Eléonore;
Tran Mau‐Them, Frederic;
Rondeau, Sophie;
Elsharkawi, Ibrahim;
Granadillo, Jorge L.;
Neidich, Julie;
Soares, Celia Azevedo;
Tkachenko, Natáliya;
M. Amudhavalli, Shivarajan;
Engleman, Kendra;
Boland, Anne;
Deleuze, Jean‐François;
Bezieau, Stéphane;
Odent, Sylvie;
Toutain, Annick

Publication type:

Article

Issue Information.

Published in:: Clinical Genetics, 2021, v. 100, n. 4, p. 355, doi. 10.1111/cge.13786
Publication type:: Article