Works matching IS 00099163 AND DT 2022 AND VI 101 AND IP 1

Results: 17

Kosaki overgrowth syndrome due to a novel de novo PDGFRB variant.

Published in:

Clinical Genetics, 2022, v. 101, n. 1, p. 144, doi. 10.1111/cge.14078

By:

Hernández Dorronsoro, Unai;
Gawlinski, Pawel;
Lasa‐Aranzasti, Amaia;
Martínez‐Soroa, Itziar;
Artola Aizalde, Elena;
Saez Villaverde, Raquel;
Aguirre Rodríguez, Cristina;
Satrustegi Aritziturri, Miren

Publication type:

Article

Use of medical exome sequencing for identification of underlying genetic defects in NICU: Experience in a cohort of 2303 neonates in China.

Published in:

Clinical Genetics, 2022, v. 101, n. 1, p. 101, doi. 10.1111/cge.14075

By:

Yang, Lin;
Wei, Zejun;
Chen, Xiang;
Hu, Liyuan;
Peng, Xiaomin;
Wang, Jin;
Lu, Chunmei;
Kong, Yanting;
Dong, Xinran;
Ni, Qi;
Lu, Yulan;
Wu, Bingbing;
Wang, Huijun;
Meirelles, Katia;
Tian, Xia;
Zhang, Jing;
Chang, Fengqi;
Liu, Liu;
Li, Changhua;
You, Wesley

Publication type:

Article

Genetic and metabolic profiling of individuals with Phelan‐McDermid syndrome presenting with seizures.

Published in:

Clinical Genetics, 2022, v. 101, n. 1, p. 87, doi. 10.1111/cge.14074

By:

Jain, Lavanya;
Oberman, Lindsay M.;
Beamer, Laura;
Cascio, Lauren;
May, Melanie;
Srikanth, Sujata;
Skinner, Cindy;
Jones, Kelly;
Allen, Bridgette;
Rogers, Curtis;
Phelan, Katy;
Kaufmann, Walter E.;
DuPont, Barbara;
Sarasua, Sara M.;
Boccuto, Luigi

Publication type:

Article

Hypermobile Ehlers–Danlos syndrome: A review and a critical appraisal of published genetic research to date.

Published in:

Clinical Genetics, 2022, v. 101, n. 1, p. 20, doi. 10.1111/cge.14026

By:

Scicluna, Kirsty;
Formosa, Melissa M.;
Farrugia, Rosienne;
Borg, Isabella

Publication type:

Article

In silico genome‐wide gene‐based association analysis reveals new genes predisposing to coronary artery disease.

Published in:

Clinical Genetics, 2022, v. 101, n. 1, p. 78, doi. 10.1111/cge.14073

By:

Zorkoltseva, Irina;
Shadrina, Alexandra;
Belonogova, Nadezhda;
Kirichenko, Anatoly;
Tsepilov, Yakov;
Axenovich, Tatiana

Publication type:

Article

The clinical efficacy and safety of anti‐IgE therapy in recessive dystrophic epidermolysis bullosa.

Published in:

Clinical Genetics, 2022, v. 101, n. 1, p. 110, doi. 10.1111/cge.14062

By:

Chen, Fuying;
Guo, Yifeng;
Zhou, Kaili;
Deng, Dan;
Yue, Wanbo;
Yang, Weiqin;
Zhang, Beibei;
Li, Yue;
Liang, Jianying;
Li, Ming;
Yao, Zhirong

Publication type:

Article

HK1 haemolytic anaemia in association with a neurological phenotype and co‐existing CEP290 Meckel–Gruber in a Romani family.

Published in:

Clinical Genetics, 2022, v. 101, n. 1, p. 142, doi. 10.1111/cge.14058

By:

Sasaki, Erina;
Phelan, Ethna;
O'Regan, Mary;
Kassim, Abdul Halim;
Miletin, Jan;
McMahon, Corrina;
O'Sullivan, Maureen J.;
Baptista, Julia;
Lynch, Sally Ann

Publication type:

Article

"I have to start learning how to live with becoming sick": A scoping review of the lived experiences of people with Huntington's disease.

Published in:

Clinical Genetics, 2022, v. 101, n. 1, p. 3, doi. 10.1111/cge.14024

By:

Mahmood, Saadia;
Law, Susan;
Bombard, Yvonne

Publication type:

Article

Copy number variations in a Brazilian cohort with autism spectrum disorders highlight the contribution of cell adhesion genes.

Published in:

Clinical Genetics, 2022, v. 101, n. 1, p. 134, doi. 10.1111/cge.14072

By:

Costa, Claudia Ismania Samogy;
da Silva Montenegro, Eduarda Morgana;
Zarrei, Mehdi;
de Sá Moreira, Eloísa;
Silva, Isabela Maya Wahys;
de Oliveira Scliar, Marília;
Wang, Jaqueline Yu Ting;
Zachi, Elaine Cristina;
Branco, Elisa Varella;
da Costa, Silvia Souza;
Lourenço, Naila Cristina Vilaça;
Vianna‐Morgante, Angela Maria;
Rosenberg, Carla;
Krepischi, Ana Cristina Victorino;
Scherer, Stephen W.;
Passos‐Bueno, Maria Rita

Publication type:

Article

Biallelic TMEM260 variants cause truncus arteriosus, with or without renal defects.

Published in:

Clinical Genetics, 2022, v. 101, n. 1, p. 127, doi. 10.1111/cge.14071

By:

Pagnamenta, Alistair T.;
Jackson, Adam;
Perveen, Rahat;
Beaman, Glenda;
Petts, Gemma;
Gupta, Asheeta;
Hyder, Zerin;
Chung, Brian Hon‐Yin;
Kan, Anita Sik‐Yau;
Cheung, Ka Wang;
Kerstjens‐Frederikse, Wilhelmina S.;
Abbott, Kristin M.;
Elpeleg, Orly;
Taylor, Jenny C.;
Banka, Siddharth;
Ta‐Shma, Asaf

Publication type:

Article

Prenatal exome sequencing: A useful tool for the fetal neurologist.

Published in:

Clinical Genetics, 2022, v. 101, n. 1, p. 65, doi. 10.1111/cge.14070

By:

de Koning, Maayke A.;
Hoffer, Mariëtte J. V.;
Nibbeling, Esther A. R.;
Bijlsma, Emilia K.;
Toirkens, Menno J. P.;
Adama‐Scheltema, Phebe N.;
Verweij, E. Joanne;
Veenhof, Marieke B.;
Santen, Gijs W. E.;
Peeters‐Scholte, Cacha M. P. C. D.

Publication type:

Article

A homozygous loss‐of‐function mutation in FBXO43 causes human non‐obstructive azoospermia.

Published in:

Clinical Genetics, 2022, v. 101, n. 1, p. 55, doi. 10.1111/cge.14069

By:

Wu, Huan;
Zhang, Xin;
Shen, Qunshan;
Liu, Yiyuan;
Gao, Yang;
Wang, Guanxiong;
Lv, Mingrong;
Hua, Rong;
Xu, Yuping;
Zhou, Ping;
Wei, Zhaolian;
Tao, Fangbiao;
He, Xiaojin;
Cao, Yunxia;
Liu, Mingxi

Publication type:

Article

Dominant‐negative pathogenic variant BRIP1 c.1045G>C is a high‐risk allele for non‐mucinous epithelial ovarian cancer: A case‐control study.

Published in:

Clinical Genetics, 2022, v. 101, n. 1, p. 48, doi. 10.1111/cge.14068

By:

Flaum, Nicola;
van Veen, Elke M.;
Smith, Olivia;
Amico, Stephanie;
Newman, William G.;
Crosbie, Emma J.;
Edmondson, Richard;
Smith, Miriam J.;
Evans, D. Gareth

Publication type:

Article

RNF43 pathogenic Germline variant in a family with colorectal cancer.

Published in:

Clinical Genetics, 2022, v. 101, n. 1, p. 122, doi. 10.1111/cge.14064

By:

Mikaeel, Reger R.;
Young, Joanne P.;
Li, Yun;
Poplawski, Nicola K.;
Smith, Eric;
Horsnell, Mehgan;
Uylaki, Wendy;
Tomita, Yoko;
Townsend, Amanda R.;
Feng, Jinghua;
Zibat, Arne;
Kaulfuß, Silke;
Müller, Christian;
Yigit, Gökhan;
Wollnik, Bernd;
Scott, Hamish;
Rawlings, Lesley;
Henry, Denae;
Vakulin, Cassandra;
Dubowsky, Andrew

Publication type:

Article

Identification and molecular analysis of 17 novel variants of hydroxymethylbilane synthase in Chinese patients with acute intermittent porphyria.

Published in:

Clinical Genetics, 2022, v. 101, n. 1, p. 116, doi. 10.1111/cge.14063

By:

Hu, Yuanxiang;
Li, Weihao;
Kang, Ninglin;
Ma, Liyan;
Teng, Qing;
Mo, Guiling;
Wu, Jiahong;
Wang, Xinyang;
Bi, Renjie;
Zhang, Songyun

Publication type:

Article

Issue Information.

Published in:: Clinical Genetics, 2022, v. 101, n. 1, p. 1, doi. 10.1111/cge.13981
Publication type:: Article

A standard of care for individuals with PIK3CA‐related disorders: An international expert consensus statement.

Published in:

Clinical Genetics, 2022, v. 101, n. 1, p. 32, doi. 10.1111/cge.14027

By:

Douzgou, Sofia;
Rawson, Myfanwy;
Baselga, Eulalia;
Danielpour, Moise;
Faivre, Laurence;
Kashanian, Alon;
Keppler‐Noreuil, Kim M.;
Kuentz, Paul;
Mancini, Grazia M. S.;
Maniere, Marie‐Cecile;
Martinez‐Glez, Victor;
Parker, Victoria E.;
Semple, Robert K.;
Srivastava, Siddharth;
Vabres, Pierre;
De Wit, Marie‐Claire Y.;
Graham, John M.;
Clayton‐Smith, Jill;
Mirzaa, Ghayda M.;
Biesecker, Leslie G.

Publication type:

Article