Works matching IS 00099163 AND DT 2023 AND VI 103 AND IP 5

Results: 16

Diagnostic yield from prenatal exome sequencing for non‐immune hydrops fetalis: A systematic review and meta‐analysis.

Published in:

Clinical Genetics, 2023, v. 103, n. 5, p. 503, doi. 10.1111/cge.14309

By:

Al‐Kouatly, Huda B.;
Shivashankar, Kavya;
Mossayebi, Matthew H.;
Makhamreh, Mona;
Critchlow, Elizabeth;
Gao, Zimeng;
Fasehun, Luther‐King;
Alkuraya, Fowzan S.;
Ryan, Erin E.;
Hegde, Madhuri;
Wodoslawsky, Sascha;
Hughes, Joel;
Berger, Seth I.

Publication type:

Article

Compound heterozygous splicing variants expand the genotypic spectrum of EMC1‐related disorders.

Published in:

Clinical Genetics, 2023, v. 103, n. 5, p. 553, doi. 10.1111/cge.14311

By:

Bryen, Samantha J.;
Zhang, Katharine;
Dziaduch, Gregory;
Bommireddipalli, Shobhana;
Naseri, Take;
Reupena, Muagututi'a Sefuiva;
Viali, Satupa'itea;
Minster, Ryan L.;
Waddell, Leigh B.;
Charlton, Amanda;
O'Grady, Gina L.;
Evesson, Frances J.;
Cooper, Sandra T.

Publication type:

Article

Updated protocol for genetic testing, screening and clinical management of individuals at risk of NF2‐related schwannomatosis.

Published in:

Clinical Genetics, 2023, v. 103, n. 5, p. 540, doi. 10.1111/cge.14310

By:

Halliday, Dorothy;
Emmanouil, Beatrice;
Evans, D. Gareth R.

Publication type:

Article

Genomic characterization of thymic epithelial tumors reveals critical genes underlying tumorigenesis and poor prognosis.

Published in:

Clinical Genetics, 2023, v. 103, n. 5, p. 529, doi. 10.1111/cge.14285

By:

Tan, Sheng;
Chen, Jili;
Wang, Zheng;
Zhao, Xiaokai;
Sun, Yonghua;
Zhu, Youcai;
Gong, Ziying;
Zhang, Daoyun

Publication type:

Article

A novel biallelic nonsense variant in SLC38A3 causing epileptic encephalopathy in an Indian family.

Published in:

Clinical Genetics, 2023, v. 103, n. 5, p. 609, doi. 10.1111/cge.14271

By:

Alawbathani, Salem;
Khan, Suliman;
Westenberger, Ana;
Beetz, Christian;
Lingappa, Lokesh

Publication type:

Article

Economic evaluation of next‐generation sequencing techniques in diagnosis of genetic disorders: A systematic review.

Published in:

Clinical Genetics, 2023, v. 103, n. 5, p. 513, doi. 10.1111/cge.14313

By:

Rezapour, Aziz;
Souresrafil, Aghdas;
Barzegar, Mohammad;
Sheikhy‐Chaman, Mohammadreza;
Tatarpour, Parvin

Publication type:

Article

Identification of POLR3B biallelic mutations‐associated hypomyelinating leukodystrophy‐8 in two siblings.

Published in:

Clinical Genetics, 2023, v. 103, n. 5, p. 596, doi. 10.1111/cge.14300

By:

Yang, Fan;
Sun, Huaqin;
Yang, Yanting;
Wang, Yanan;
Dai, Siyu;
Lin, Ziyuan;
Shen, Ying;
Liu, Hongqian

Publication type:

Article

Novel variants in ACTL7A and PLCZ1 are associated with male infertility and total fertilization failure.

Published in:

Clinical Genetics, 2023, v. 103, n. 5, p. 603, doi. 10.1111/cge.14293

By:

Zhao, Shuai;
Cui, Ying;
Guo, Shunli;
Liu, Boyang;
Bian, Yuehong;
Zhao, Shigang;
Chen, Zijiang;
Zhao, Han

Publication type:

Article

Copy number variations in SPAST and ATL1 are rare among Brazilians.

Published in:

Clinical Genetics, 2023, v. 103, n. 5, p. 580, doi. 10.1111/cge.14280

By:

Fussiger, Helena;
Pereira, Bruna Letícia da Silva;
Padilha, Janice Pacheco Dias;
Donis, Karina Carvalho;
Siebert, Marina;
Brusius‐Facchin, Ana Carolina;
Baldo, Guilherme;
Saute, Jonas Alex Morales

Publication type:

Article

Natural history of clinical features in two brothers with acromesomelic dysplasia related to PRKG2.

Published in:

Clinical Genetics, 2023, v. 103, n. 5, p. 574, doi. 10.1111/cge.14277

By:

Mollaoğlu, Ezgi;
Uludağ Alkaya, Dilek;
Yıldız, Ceren Ayça;
Kasap, Buşra;
Tüysüz, Beyhan

Publication type:

Article

Expansion of the phenotypic and molecular spectrum of CWF19L1‐related disorder.

Published in:

Clinical Genetics, 2023, v. 103, n. 5, p. 566, doi. 10.1111/cge.14275

By:

Alvarez, Carolina;
Grimmel, Mona;
Ebrahimi‐Fakhari, Darius;
Paul, Victoria G.;
Deininger, Natalie;
Riess, Angelika;
Haack, Tobias;
Gardella, Elena;
Møller, Rikke S.;
Bayat, Allan

Publication type:

Article

Three KINSSHIP syndrome patients with mosaic and germline AFF3 variants.

Published in:

Clinical Genetics, 2023, v. 103, n. 5, p. 590, doi. 10.1111/cge.14292

By:

Inoue, Yuta;
Tsuchida, Naomi;
Okamoto, Nobuhiko;
Shuichi, Shimakawa;
Ohashi, Kei;
Saitoh, Shinji;
Ogawa, Atsushi;
Hamada, Keisuke;
Sakamoto, Masamune;
Miyake, Noriko;
Hamanaka, Kohei;
Fujita, Atsushi;
Koshimizu, Eriko;
Miyatake, Satoko;
Mizuguchi, Takeshi;
Ogata, Kazuhiro;
Uchiyama, Yuri;
Matsumoto, Naomichi

Publication type:

Article

Fatal congenital copper transport defect caused by a homozygous likely pathogenic variant of SLC31A1.

Published in:

Clinical Genetics, 2023, v. 103, n. 5, p. 585, doi. 10.1111/cge.14289

By:

Dame, Christof;
Horn, Denise;
Schomburg, Lutz;
Grünhagen, Johannes;
Chillon, Thilo Samson;
Tietze, Anna;
Vogt, Annika;
Bührer, Christoph

Publication type:

Article

Perinatal presentations of non‐immune hydrops fetalis due to recessive PIEZO1 disease: A challenging fetal diagnosis.

Published in:

Clinical Genetics, 2023, v. 103, n. 5, p. 560, doi. 10.1111/cge.14274

By:

Ghesh, Leïla;
Désir, Julie;
Haye, Damien;
Le Tanno, Pauline;
Devillard, Françoise;
Cogné, Benjamin;
Marangoni, Martina;
Tecco, Laura;
Heron, Delphine;
Le Vaillant, Claudine;
Joubert, Madeleine;
Beneteau, Claire

Publication type:

Article

Expanding the sperm phenotype caused by mutations in SPATA20: A novel splicing mutation in an infertile patient with partial globozoospermia.

Published in:

Clinical Genetics, 2023, v. 103, n. 5, p. 612, doi. 10.1111/cge.14284

By:

Martinez, Guillaume;
Metzler‐Guillemain, Catherine;
Cazin, Caroline;
Kherraf, Zine‐Eddine;
Paulmyer‐Lacroix, Odile;
Arnoult, Christophe;
Ray, Pierre F.;
Coutton, Charles

Publication type:

Article

Issue Information.

Published in:: Clinical Genetics, 2023, v. 103, n. 5, p. 501, doi. 10.1111/cge.14155
Publication type:: Article