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

Results: 15

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
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
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
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
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
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
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
Issue Information.
Published in:
Clinical Genetics, 2022, v. 102, n. 6, p. 463, doi. 10.1111/cge.13992
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
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
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
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