Works matching IS 00099163 AND DT 2021 AND VI 99 AND IP 2

Results: 18

Clinical Genetics paving the way to the future.

Published in:

Clinical Genetics, 2021, v. 99, n. 2, p. 217, doi. 10.1111/cge.13899

By:

Veitia, Reiner A.

Publication type:

Article

A novel heterozygous variant in FGF9 associated with previously unreported features of multiple synostosis syndrome 3.

Published in:

Clinical Genetics, 2021, v. 99, n. 2, p. 325, doi. 10.1111/cge.13880

By:

Thuresson, Ann‐Charlotte;
Croft, Brittany;
Hailer, Yasmin D.;
Liminga, Gunnar;
Arvidsson, Carl‐Göran;
Harley, Vincent R.;
Stattin, Eva‐Lena

Publication type:

Article

Genotype FBN1/phenotype relationship in a cohort of patients with Marfan syndrome.

Published in:

Clinical Genetics, 2021, v. 99, n. 2, p. 269, doi. 10.1111/cge.13879

By:

Hernándiz, Amparo;
Zúñiga, Angel;
Valera, Francisco;
Domingo, Diana;
Ontoria‐Oviedo, Imelda;
Marí, Jose F.;
Román, Jose A.;
Calvo, Inmaculada;
Insa, Beatriz;
Gómez, Rosa;
Cervera, José V.;
Miralles, Manuel;
Montero, Jose A.;
Martínez‐Dolz, Luis;
Sepúlveda, Pilar

Publication type:

Article

A BBS1 SVA F retrotransposon insertion is a frequent cause of Bardet‐Biedl syndrome.

Published in:

Clinical Genetics, 2021, v. 99, n. 2, p. 318, doi. 10.1111/cge.13878

By:

Delvallée, Clarisse;
Nicaise, Samuel;
Antin, Manuela;
Leuvrey, Anne‐Sophie;
Nourisson, Elsa;
Leitch, Carmen C.;
Kellaris, Georgios;
Stoetzel, Corinne;
Geoffroy, Véronique;
Scheidecker, Sophie;
Keren, Boris;
Depienne, Christel;
Klar, Joakim;
Dahl, Niklas;
Deleuze, Jean‐François;
Génin, Emmanuelle;
Redon, Richard;
Demurger, Florence;
Devriendt, Koenraad;
Mathieu‐Dramard, Michèle

Publication type:

Article

PIGH deficiency can be associated with severe neurodevelopmental and skeletal manifestations.

Published in:

Clinical Genetics, 2021, v. 99, n. 2, p. 313, doi. 10.1111/cge.13877

By:

Tremblay‐Laganière, Camille;
Kaiyrzhanov, Rauan;
Maroofian, Reza;
Nguyen, Thi Tuyet Mai;
Salayev, Kamran;
Chilton, Ilana T.;
Chung, Wendy K.;
Madden, Jill A.;
Phornphutkul, Chanika;
Agrawal, Pankaj B.;
Houlden, Henry;
Campeau, Philippe M.

Publication type:

Article

Clinical application of a phenotype‐based NGS panel for differential diagnosis of inherited kidney disease and beyond.

Published in:

Clinical Genetics, 2021, v. 99, n. 2, p. 236, doi. 10.1111/cge.13869

By:

Oh, Jiyoung;
Shin, Jae Il;
Lee, Keumwha;
Lee, CheolHo;
Ko, Younhee;
Lee, Jin‐Sung

Publication type:

Article

Vestibular phenotype‐genotype correlation in a cohort of 90 patients with Usher syndrome.

Published in:

Clinical Genetics, 2021, v. 99, n. 2, p. 226, doi. 10.1111/cge.13868

By:

Wafa, Talah T.;
Faridi, Rabia;
King, Kelly A.;
Zalewski, Christopher;
Yousaf, Rizwan;
Schultz, Julie M.;
Morell, Robert J.;
Muskett, Julie;
Turriff, Amy;
Tsilou, Ekaterini;
Griffith, Andrew J.;
Friedman, Thomas B.;
Zein, Wadih M.;
Brewer, Carmen C.

Publication type:

Article

Parkes‐Weber syndrome related to RASA1 mosaic mutation.

Published in:

Clinical Genetics, 2021, v. 99, n. 2, p. 330, doi. 10.1111/cge.13860

By:

Boccara, Olivia;
Eyries, Mélanie;
Pannier, Stéphanie;
Ariche‐Maman, Sonia;
Hadj‐Rabia, Smail;
Coulet, Florence

Publication type:

Article

Expanding the genetic and phenotypic spectrum of the subcortical maternal complex genes in recurrent preimplantation embryonic arrest.

Published in:

Clinical Genetics, 2021, v. 99, n. 2, p. 286, doi. 10.1111/cge.13858

By:

Zheng, Wei;
Hu, Huiling;
Dai, Jing;
Zhang, Shuoping;
Gu, Yifan;
Dai, Can;
Guo, Jing;
Xu, Xinxin;
Li, Yuan;
Zhang, Shunji;
Hu, Liang;
Gong, Fei;
Lu, Guangxiu;
Lin, Ge

Publication type:

Article

Identification of the third FGF9 variant in a girl with multiple synostosis–comparison of the genotype:phenotype of FGF9 variants in humans and mice.

Published in:

Clinical Genetics, 2021, v. 99, n. 2, p. 309, doi. 10.1111/cge.13876

By:

Sentchordi‐Montané, Lucia;
Diaz‐Gonzalez, Francisca;
Cátedra‐Vallés, Elena V.;
Heath, Karen E.

Publication type:

Article

A review on age‐related cancer risks in PTEN hamartoma tumor syndrome.

Published in:

Clinical Genetics, 2021, v. 99, n. 2, p. 219, doi. 10.1111/cge.13875

By:

Hendricks, Linda A.J.;
Hoogerbrugge, Nicoline;
Schuurs‐Hoeijmakers, Janneke H.M.;
Vos, Janet R.

Publication type:

Article

Expanding the molecular spectrum and the neurological phenotype related to CAMTA1 variants.

Published in:

Clinical Genetics, 2021, v. 99, n. 2, p. 259, doi. 10.1111/cge.13874

By:

Jacobs, Eva Z.;
Brown, Kathleen;
Byler, Melissa C.;
D'haenens, Erika;
Dheedene, Annelies;
Henderson, Lindsay B.;
Humberson, Jennifer B.;
Jaarsveld, Richard H.;
Kanani, Farah;
Lebel, Robert Roger;
Millan, Francisca;
Oegema, Renske;
Oostra, Ann;
Parker, Michael J.;
Rhodes, Lindsay;
Saenz, Margarita;
Seaver, Laurie H.;
Si, Yue;
Vanlander, Arnaud;
Vergult, Sarah

Publication type:

Article

An X‐linked syndrome with severe neurodevelopmental delay, hydrocephalus, and early lethality caused by a missense variation in the OTUD5 gene.

Published in:

Clinical Genetics, 2021, v. 99, n. 2, p. 303, doi. 10.1111/cge.13873

By:

Tripolszki, Kornelia;
Sasaki, Erina;
Hotakainen, Ronja;
Kassim, Abdul Halim;
Pereira, Catarina;
Rolfs, Arndt;
Bauer, Peter;
Reardon, William;
Bertoli‐Avella, Aida M.

Publication type:

Article

WDR34, a candidate gene for non‐syndromic rod‐cone dystrophy.

Published in:

Clinical Genetics, 2021, v. 99, n. 2, p. 298, doi. 10.1111/cge.13872

By:

Solaguren‐Beascoa, Maria;
Bujakowska, Kinga M.;
Méjécase, Cécile;
Emmenegger, Lisa;
Orhan, Elise;
Neuillé, Marion;
Mohand‐Saïd, Saddek;
Condroyer, Christel;
Lancelot, Marie‐Elise;
Michiels, Christelle;
Demontant, Vanessa;
Antonio, Aline;
Letexier, Mélanie;
Saraiva, Jean‐Paul;
Lonjou, Christine;
Carpentier, Wassila;
Léveillard, Thierry;
Pierce, Eric A.;
Dollfus, Hélène;
Sahel, José‐Alain

Publication type:

Article

A novel monogenic preimplantation genetic testing strategy for sporadic polycystic kidney caused by de novoPKD1 mutation.

Published in:

Clinical Genetics, 2021, v. 99, n. 2, p. 250, doi. 10.1111/cge.13871

By:

Shi, Hao;
Niu, Wenbin;
Liu, Yidong;
Jin, Haixia;
Song, Wenyan;
Shi, Senlin;
Yao, Guidong;
Xu, Jiawei;
Sun, Yingpu

Publication type:

Article

Novel GZF1 pathogenic variants identified in two Chinese patients with Larsen syndrome.

Published in:

Clinical Genetics, 2021, v. 99, n. 2, p. 281, doi. 10.1111/cge.13856

By:

Zeng, Lanlan;
Li, Zhibin;
Pan, Lijuan;
Li, Hongyan;
Wu, Jiayu;
Yuan, Xiying;
Li, Zhuo;
Liang, Desheng;
Wu, Lingqian

Publication type:

Article

Issue Information.

Published in:: Clinical Genetics, 2021, v. 99, n. 2, p. 215, doi. 10.1111/cge.13778
Publication type:: Article

Missing heritability in Bloom syndrome: First report of a deep intronic variant leading to pseudo‐exon activation in the BLM gene.

Published in:

Clinical Genetics, 2021, v. 99, n. 2, p. 292, doi. 10.1111/cge.13859

By:

Backers, Lynn;
Parton, Bram;
De Bruyne, Marieke;
Tavernier, Simon J.;
Van Den Bogaert, Kris;
Lambrecht, Bart N.;
Haerynck, Filomeen;
Claes, Kathleen B.M.

Publication type:

Article