Works matching IS 00099163 AND DT 2022 AND VI 102 AND IP 6

Results: 15

Biallelic frameshift variant in the TBC1D2B gene in two siblings with progressive gingival overgrowth, fibrous dysplasia of face, and mental deterioration.

Published in:

Clinical Genetics, 2022, v. 102, n. 6, p. 537, doi. 10.1111/cge.14215

By:

Correia‐Costa, Gabriela Roldão;
de Leeuw, Nicole;
Pfundt, Rolph;
Sgardioli, Ilária Cristina;
dos Santos, Ana Paula;
de Lima Santos, Marilza;
Gil‐da‐Silva‐Lopes, Vera Lúcia;
Vieira, Társis Paiva

Publication type:

Article

A common intronic single nucleotide variant modifies PKD1 expression level.

Published in:

Clinical Genetics, 2022, v. 102, n. 6, p. 483, doi. 10.1111/cge.14214

By:

Zhang, Zhengmao;
Blumenfeld, Jon;
Ramnauth, Andrew;
Barash, Irina;
Zhou, Pengbo;
Levine, Daniel;
Parker, Thomas;
Rennert, Hanna

Publication type:

Article

Expanding the genetic spectrum of tooth agenesis using whole‐exome sequencing.

Published in:

Clinical Genetics, 2022, v. 102, n. 6, p. 503, doi. 10.1111/cge.14225

By:

Yu, Kang;
Dou, Jiaqi;
Huang, Wei;
Wang, Feng;
Wu, Yiqun

Publication type:

Article

Hereditary spastic paraparesis presenting as cerebral palsy due to ADD3 variant with mechanistic insight provided by a Drosophila γ‐adducin model.

Published in:

Clinical Genetics, 2022, v. 102, n. 6, p. 494, doi. 10.1111/cge.14220

By:

Sanchez Marco, Silvia Beatriz;
Buhl, Edgar;
Firth, Rose;
Zhu, Bangfu;
Gainsborough, Mary;
Beleza‐Meireles, Ana;
Moore, Sandra;
Caswell, Richard;
Stals, Karen;
Ellard, Sian;
Kennedy, Cameron;
Hodge, James J. L.;
Majumdar, Anirban

Publication type:

Article

Consanguineous families with unusually high recurrence risk: A voice to be heard in the germline gene‐editing debate.

Published in:: Clinical Genetics, 2022, v. 102, n. 6, p. 560, doi. 10.1111/cge.14209
Publication type:: Article

Literature review on genotype–phenotype correlation in patients with hereditary spherocytosis.

Published in:

Clinical Genetics, 2022, v. 102, n. 6, p. 474, doi. 10.1111/cge.14223

By:

Yang, Liqing;
Shu, Huiying;
Zhou, Min;
Gong, Yuping

Publication type:

Article

Diamond‐Blackfan anaemia caused by a de novo initiation codon mutation resulting in a shorter isoform of GATA1.

Published in:

Clinical Genetics, 2022, v. 102, n. 6, p. 548, doi. 10.1111/cge.14218

By:

Chen, Tongtong;
Zhang, Qianqian;
Shang, Xuan;
Zou, Shaomin;
Qin, Jiaofeng;
Li, Kui;
Lin, Bin;
Tao, Zhenzhong;
Long, Xingjiang;
Xu, Xiangmin

Publication type:

Article

A Gardos channelopathy associated with nonimmune hydrops and fetal loss.

Published in:

Clinical Genetics, 2022, v. 102, n. 6, p. 543, doi. 10.1111/cge.14217

By:

Ghesh, Leïla;
Besnard, Thomas;
Joubert, Madeleine;
Picard, Véronique;
Le Vaillant, Claudine;
Beneteau, Claire

Publication type:

Article

Dysferlinopathies: Clinical and genetic variability.

Published in:

Clinical Genetics, 2022, v. 102, n. 6, p. 465, doi. 10.1111/cge.14216

By:

Ivanova, Alisa;
Smirnikhina, Svetlana;
Lavrov, Alexander

Publication type:

Article

A recurrent homozygous missense DPM3 variant leads to muscle and brain disease.

Published in:

Clinical Genetics, 2022, v. 102, n. 6, p. 530, doi. 10.1111/cge.14208

By:

Nagy, Sara;
Lau, Tracy;
Alavi, Shahryar;
Karimiani, Ehsan Ghayoor;
Vallian, Jalal;
Ng, Bobby G.;
Noroozi Asl, Samaneh;
Akhondian, Javad;
Bahreini, Amir;
Yaghini, Omid;
Uapinyoying, Prech;
Bonnemann, Carsten;
Freeze, Hudson H.;
Dissanayake, Vajira H. W.;
Sirisena, Nirmala D.;
Schmidts, Miriam;
Houlden, Henry;
Moreno‐De‐Luca, Andres;
Maroofian, Reza

Publication type:

Article

Deep intronic variant in MVK as a cause for mevalonic aciduria initially presenting as non‐syndromic retinitis pigmentosa.

Published in:

Clinical Genetics, 2022, v. 102, n. 6, p. 524, doi. 10.1111/cge.14207

By:

Dvaladze, Anna;
Tavares, Erika;
Di Scipio, Matteo;
Nimmo, Graeme;
Grudzinska‐Pechhacker, Monika K.;
Paton, Tara;
Tumber, Anupreet;
Li, Shuning;
Eileen, Christabel;
Ertl‐Wagner, Birgit;
Mamak, Eva;
Hoffmann, Georg;
Marshall, Christian R.;
Haas, Dorothea;
Mayatepek, Ertan;
Schulze, Andreas;
Heon, Elise;
Vincent, Ajoy

Publication type:

Article

The recurrent TCF4 missense variant p.(Arg389Cys) causes a neurodevelopmental disorder overlapping with but not typical for Pitt‐Hopkins syndrome.

Published in:

Clinical Genetics, 2022, v. 102, n. 6, p. 517, doi. 10.1111/cge.14206

By:

Popp, Bernt;
Bienvenu, Thierry;
Giurgea, Irina;
Metreau, Julia;
Kraus, Cornelia;
Reis, André;
Fischer, Jan;
Bralo, María Palomares;
Tenorio‐Castaño, Jair;
Lapunzina, Pablo;
Almoguera, Berta;
Lopez‐Grondona, Fermina;
Sticht, Heinrich;
Zweier, Christiane

Publication type:

Article

Issue Information.

Published in:: Clinical Genetics, 2022, v. 102, n. 6, p. 463, doi. 10.1111/cge.13992
Publication type:: Article

The oligogenic model of amyotrophic lateral sclerosis; phenotypes of three Tunisian families.

Published in:

Clinical Genetics, 2022, v. 102, n. 6, p. 555, doi. 10.1111/cge.14205

By:

Sghaier, Ikram;
Kacem, Imen;
Ticozzi, Nicola;
Mrabet, Saloua;
Paverelli, Silvia;
Abida, Youssef;
Ratti, Antonia;
Silani, Vincenzo;
Gouider, Riadh

Publication type:

Article

Looking closely at overgrowth: Constitutional mosaicism in PTEN hamartoma tumor syndrome.

Published in:

Clinical Genetics, 2022, v. 102, n. 6, p. 557, doi. 10.1111/cge.14202

By:

Newman, Haley;
Long, Jessica M.;
Zelley, Kristin;
Baldino, Sarah;
Li, Marilyn M.;
Maxwell, Kara N.;
MacFarland, Suzanne P.

Publication type:

Article