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

Results: 18

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