Works matching IS 00099163 AND DT 2022 AND VI 101 AND IP 5/6

Results: 12

Bi-allelic SPATA22 variants cause premature ovarian insufficiency and nonobstructive azoospermia due to meiotic arrest.

Published in:

Clinical Genetics, 2022, v. 101, n. 5/6, p. 507, doi. 10.1111/cge.14129

By:

Chencheng Yao;
Dong Hou;
Zhiyong Ji;
Dongmei Pang;
Peng Li;
Ruhui Tian;
Yuxiang Zhang;
Ningjing Ou;
Haowei Bai;
Erlei Zhi;
Yuhua Huang;
Yingying Qin;
Jingpeng Zhao;
Chenchen Wang;
Zhi Zhou;
Ting Guo;
Zheng Li

Publication type:

Article

A homozygous frame-shift variant in PROSER1 is associated with developmental delay, hypotonia, genitourinary malformations, and distinctive facial features.

Published in:

Clinical Genetics, 2022, v. 101, n. 5/6, p. 565, doi. 10.1111/cge.14126

By:

Salah, Azza;
Almannai, Mohammed;
Ojaimi, Mode Al;
Radefeldt, Mandy;
Gulati, Nishtha;
Iqbal, Maria;
Alawbathani, Salem;
Al-Ali, Ruslan;
Beetz, Christian;
El-Hattab, Ayman W.

Publication type:

Article

The diagnosis of the first-documented intragenic KANSL1 microduplication patient broadens the genetic spectrum of Koolen de Vries syndrome.

Published in:

Clinical Genetics, 2022, v. 101, n. 5/6, p. 575, doi. 10.1111/cge.14124

By:

Martorell, Loreto;
Yubero, Delia;
Cuatrecasas Capdevila, Esther;
Fernández Isern, Guerau;
Salinas, Diana;
Mari Vico, Rosanna;
Rebollo, Monica;
Muchart, Jordi;
Armstrong, Judith;
Ortigoza-Escobar, Juan Darío

Publication type:

Article

Multicenter study on the genetics of glomerular diseases among southeast and south Asians: Deciphering Diversities - Renal Asian Genetics Network (DRAGoN).

Published in:

Clinical Genetics, 2022, v. 101, n. 5/6, p. 541, doi. 10.1111/cge.14116

By:

Liangjian Lu;
Yok-Chin Yap;
Duc Quang Nguyen;
Yiong-Huak Chan;
Jun-Li Ng;
Yao-Chun Zhang;
Chang-Yien Chan;
Mya Than;
Isaac Desheng Liu;
Asim, Sadaf;
Moorani, Khemchand;
Naeem, Bilquis;
Ijaz, Iftikhar;
Tan Nguyen, Thi Minh;
Ming-Lee Lee;
Eng, Caroline;
Saimul Huque, Syed;
Yong-Hong Ng;
Ganesan, Indra;
Sing-Ming Chao

Publication type:

Article

Neurofibromas in LZTR1 schwannomatosis.

Published in:

Clinical Genetics, 2022, v. 101, n. 5/6, p. 571, doi. 10.1111/cge.14121

By:

Groen, Justus L.;
Moghadasi, Setareh;
Spruijt, Liesbeth;
Korpershoek, Esther;
Ierland, Yvette van;
Tom van Wezel, J.;
Duinen, Sjoerd van;
Malessy, Martijn J. A.;
Lesnik Oberstein, Saskia A. J.

Publication type:

Article

In Vitro Fertilization assisted by IntraCytoplasmic Sperm Injection in a male patient with Bardet–Biedl syndrome.

Published in:

Clinical Genetics, 2022, v. 101, n. 5/6, p. 573, doi. 10.1111/cge.14122

By:

Grèze, Cécile;
Muller, Jean;
Schindler, Larissa;
Rossignol, Sylvie;
Messaddeq, Nadia;
Zinetti-Bertschy, Anna;
Goetz, Nathalie;
Dollfus, Hélène;
Koscinski, Isabelle

Publication type:

Article

CIBERER: Spanish national network for research on rare diseases: A highly productive collaborative initiative.

Published in:

Clinical Genetics, 2022, v. 101, n. 5/6, p. 481, doi. 10.1111/cge.14113

By:

Luque, Juan;
Mendes, Ingrid;
Gomez, Beatriz;
Morte, Beatriz;
Lopez de Heredia, Miguel;
Herreras, Enrique;
Corrochano, Virginia;
Bueren, Juan;
Gallano, Pía;
Artuch, Rafael;
Fillat, Cristina;
Pérez-Jurado, Luis A.;
Montoliu, Lluis;
Carracedo, Angel;
Millán, José M.;
Webb, Susan M.;
Palau, Francesc;
Lapunzina, Pablo

Publication type:

Article

Phenotypic spectrum of BLM- and RMI1-related Bloom syndrome.

Published in:

Clinical Genetics, 2022, v. 101, n. 5/6, p. 559, doi. 10.1111/cge.14125

By:

Gönenc, Ipek Ilgin;
Elcioglu, Nursel H.;
Grijalva, Carolina Martinez;
Aras, Seda;
Großmann, Nadine;
Praulich, Inka;
Altmüller, Janine;
Kaulfuß, Silke;
Yun Li;
Nürnberg, Peter;
Burfeind, Peter;
Yigit, Gökhan;
Wollnik, Bernd

Publication type:

Article

First evidence of SOX2 mutations in Peters' anomaly: Lessons from molecular screening of 95 patients.

Published in:

Clinical Genetics, 2022, v. 101, n. 5/6, p. 494, doi. 10.1111/cge.14123

By:

Chesneau, Bertrand;
Aubert-Mucca, Marion;
Fremont, Félix;
Pechmeja, Jacmine;
Soler, Vincent;
Isidor, Bertrand;
Nizon, Mathilde;
Dollfus, Hélène;
Kaplan, Josseline;
Fares-Taie, Lucas;
Rozet, Jean-Michel;
Busa, Tiffany;
Lacombe, Didier;
Naudion, Sophie;
Amiel, Jeanne;
Rio, Marlène;
Attie-Bitach, Tania;
Lesage, Cécile;
Thouvenin, Dominique;
Odent, Sylvie

Publication type:

Article

Pathogenic variant-based preconception carrier screening in the Israeli Jewish population.

Published in:

Clinical Genetics, 2022, v. 101, n. 5/6, p. 517, doi. 10.1111/cge.14131

By:

Davidov, Bella;
Levon, Amit;
Volkov, Hadas;
Orenstein, Naama;
Karo, Racheli;
Gazit, Inbal Fatal;
Magal, Nurit;
Basel-Salmon, Lina;
Mashiach, Michal Golan

Publication type:

Article

Systemic inflammatory syndrome in children with FARSA deficiency.

Published in:

Clinical Genetics, 2022, v. 101, n. 5/6, p. 552, doi. 10.1111/cge.14120

By:

Charbit-Henrion, Fabienne;
Goguyer-Deschaumes, Roman;
Borensztajn, Keren;
Mirande, Marc;
Berthelet, Jérémy;
Rodrigues-Lima, Fernando;
Khiat, Anis;
Frémond, Marie-Louise;
Bader-Meunier, Brigitte;
Rodari, Marco M.;
Seabra, Luis;
Rice, Gillian I.;
Legendre, Marie;
Drummond, David;
Berteloot, Laureline;
Roux, Charles-Joris;
Boddaert, Nathalie;
Drabent, Philippe;
Molina, Thierry Jo;
Lacaille, Florence

Publication type:

Article

El-Hattab-Alkuraya syndrome caused by biallelic WDR45B pathogenic variants: Further delineation of the phenotype and genotype.

Published in:

Clinical Genetics, 2022, v. 101, n. 5/6, p. 530, doi. 10.1111/cge.14132

By:

Almannai, Mohammed;
Marafi, Dana;
Abdel-Salam, Ghada M. H.;
Zaki, Maha S.;
Duan, Ruizhi;
Calame, Daniel;
Herman, Isabella;
Levesque, Felix;
Elbendary, Hasnaa M.;
Hegazy, Ibrahim;
Chung, Wendy K.;
Kavus, Haluk;
Saeidi, Kolsoum;
Maroofian, Reza;
AlHashim, Aqeela;
Al-Otaibi, Ali;
Madhi, Asma Al;
Abou Al-Seood, Hager M.;
Alasmari, Ali;
Houlden, Henry

Publication type:

Article