Works matching IS 00099163 AND DT 2021 AND VI 99 AND IP 5

Results: 17

Whole genome sequencing reveals biallelic PLA2G6 mutations in siblings with cerebellar atrophy and cap myopathy.

Published in:

Clinical Genetics, 2021, v. 99, n. 5, p. 746, doi. 10.1111/cge.13935

By:

McMillan, Hugh J.;
Marshall, Aren E.;
Venkateswaran, Sunita;
Hartley, Taila;
Warman‐Chardon, Jodi;
Ramani, Arun K.;
Marshall, Christian R.;
Michaud, Jean;
Boycott, Kym M.;
Dyment, David A.;
Kernohan, Kristin D.

Publication type:

Article

A rare case of fatty acyl‐CoA reductase 1 deficiency in an Indian infant manifesting rhizomelic chondrodystrophy phenotype.

Published in:

Clinical Genetics, 2021, v. 99, n. 5, p. 744, doi. 10.1111/cge.13934

By:

Radha Rama Devi, Akella;
Naushad, Shaik Mohammad;
Jain, Romit;
Lingappa, Lokesh

Publication type:

Article

Skraban‐Deardorff syndrome: Six new cases of WDR26‐related disease and expansion of the clinical phenotype.

Published in:

Clinical Genetics, 2021, v. 99, n. 5, p. 732, doi. 10.1111/cge.13933

By:

Cospain, Auriane;
Schaefer, Elise;
Faoucher, Marie;
Dubourg, Christèle;
Carré, Wilfrid;
Bizaoui, Varoona;
Assoumani, Jessica;
Van Maldergem, Lionel;
Piton, Amélie;
Gérard, Bénédicte;
Tran Mau‐Them, Frédéric;
Bruel, Ange‐Line;
Faivre, Laurence;
Demurger, Florence;
Pasquier, Laurent;
Odent, Sylvie;
Fradin, Mélanie;
Lavillaureix, Alinoë

Publication type:

Article

Hematological findings associated with tubulin‐folding cofactors D‐related encephalopathy: Expanding the phenotype.

Published in:

Clinical Genetics, 2021, v. 99, n. 5, p. 724, doi. 10.1111/cge.13932

By:

Al‐Bakheet, Albandary;
Tohary, Mohamed;
Khan, Sameena;
Chedrawi, Aziza;
Edrees, Alaa;
Tous, Ehab;
Al‐Mousa, Hamoud;
Al‐Otaibi, Lefian;
AlShahrani, Saif;
Alsagob, Maysoon;
Al‐Quait, Laila;
Almass, Rawan;
Al‐Joudi, Haya;
Monies, Dorota;
Al‐Semari, Abdulaziz;
Aldosary, Mazhor;
Daghestani, Maha;
Colak, Dilek;
Kaya, Namik;
Al‐Owain, Mohammed

Publication type:

Article

A new case of Smith‐Kingsmore syndrome with somatic MTOR pathogenic variant expands the phenotypic spectrum to lateralized overgrowth.

Published in:

Clinical Genetics, 2021, v. 99, n. 5, p. 719, doi. 10.1111/cge.13931

By:

Carli, Diana;
Ferrero, Giovanni Battista;
Fusillo, Anna;
Coppo, Paola;
La Selva, Roberta;
Zinali, Federica;
Cardaropoli, Simona;
Ranieri, Carlotta;
Iacoviello, Matteo;
Resta, Nicoletta;
Mussa, Alessandro

Publication type:

Article

Biallelic loss of function variant in the unfolded protein response gene PDIA6 is associated with asphyxiating thoracic dystrophy and neonatal‐onset diabetes.

Published in:

Clinical Genetics, 2021, v. 99, n. 5, p. 694, doi. 10.1111/cge.13930

By:

Al‐Fadhli, Fatima M.;
Afqi, Manal;
Sairafi, Mona Hamza;
Almuntashri, Makki;
Alharby, Essa;
Alharbi, Ghadeer;
Abdud Samad, Firoz;
Hashmi, Jamil Amjad;
Zaytuni, Dimah;
Bahashwan, Ahmed A.;
Choi, Jin Huk;
Peake, Roy W. A.;
Beutler, Bruce;
Almontashiri, Naif A. M.

Publication type:

Article

Two intronic cis‐acting variants in both alleles of the POLR3A gene cause progressive spastic ataxia with hypodontia.

Published in:

Clinical Genetics, 2021, v. 99, n. 5, p. 713, doi. 10.1111/cge.13929

By:

Fellner, Avi;
Lossos, Alexander;
Kogan, Elena;
Argov, Zohar;
Gonzaga‐Jauregui, Claudia;
Shuldiner, Alan R.;
Darawshe, Malak;
Bazak, Lily;
Lidzbarsky, Gabriel;
Shomron, Noam;
Basel‐Salmon, Lina;
Goldberg, Yael

Publication type:

Article

The sodium/proton exchanger SLC9C1 (sNHE) is essential for human sperm motility and fertility.

Published in:

Clinical Genetics, 2021, v. 99, n. 5, p. 684, doi. 10.1111/cge.13927

By:

Cavarocchi, Emma;
Whitfield, Marjorie;
Chargui, Ahmed;
Stouvenel, Laurence;
Lorès, Patrick;
Coutton, Charles;
Arnoult, Christophe;
Santulli, Pietro;
Patrat, Catherine;
Thierry‐Mieg, Nicolas;
Ray, Pierre F.;
Dulioust, Emmanuel;
Touré, Aminata

Publication type:

Article

Achalasia as a symptom guide in MIRAGE syndrome: A novel case with p.R1293Q and p.R902W variants in the SAMD9 gene.

Published in:

Clinical Genetics, 2021, v. 99, n. 5, p. 740, doi. 10.1111/cge.13914

By:

Baquedano‐Lobera, Irene;
Romero‐Salas, Yolanda;
Ros‐Arnal, Ignacio;
Miramar‐Gallart, María Dolores;
López‐Pisón, Javier;
Corona‐Bellostas, Carolina;
García‐Romero, Ruth

Publication type:

Article

Mutation in PHACTR1 associated with multifocal epilepsy with infantile spasms and hypsarrhythmia.

Published in:

Clinical Genetics, 2021, v. 99, n. 5, p. 673, doi. 10.1111/cge.13926

By:

Marakhonov, Andrey V.;
Přechová, Magdalena;
Konovalov, Fedor A.;
Filatova, Alexandra Yu.;
Zamkova, Maria A.;
Kanivets, Ilya V.;
Solonichenko, Vladimir G.;
Semenova, Natalia A.;
Zinchenko, Rena A.;
Treisman, Richard;
Skoblov, Mikhail Yu.

Publication type:

Article

Early genetic screening uncovered a high prevalence of thalassemia among 18 309 neonates in Guizhou, China.

Published in:

Clinical Genetics, 2021, v. 99, n. 5, p. 704, doi. 10.1111/cge.13923

By:

Tan, Mei;
Bai, Yue;
Zhang, Xiangmei;
Sun, Jian;
Huang, Chengshuang;
Tian, Runmei;
Yang, Yuhang;
Luo, Xi;
Su, Qiong;
Wu, Liusong;
Zheng, Libo;
Xia, Jing;
Murong, Hongmei;
Zhu, Ping;
Yang, Fan;
Zhong, Xiaosong;
Chen, Jindong;
Chen, Yan

Publication type:

Article

Clinical and neuroimaging findings in 33 patients with MCAP syndrome: A survey to evaluate relevant endpoints for future clinical trials.

Published in:

Clinical Genetics, 2021, v. 99, n. 5, p. 650, doi. 10.1111/cge.13918

By:

Garde, Aurore;
Guibaud, Laurent;
Goldenberg, Alice;
Petit, Florence;
Dard, Rodolphe;
Roume, Joelle;
Mazereeuw‐Hautier, Juliette;
Chassaing, Nicolas;
Lacombe, Didier;
Morice‐Picard, Fanny;
Toutain, Annick;
Arpin, Stéphanie;
Boccara, Olivia;
Touraine, Renaud;
Blanchet, Patricia;
Coubes, Christine;
Willems, Marjolaine;
Pinson, Lucile;
Van Kien, Philippe Khau;
Chiaverini, Christine

Publication type:

Article

Pitfalls and challenges in genetic test interpretation: An exploration of genetic professionals experience with interpretation of results.

Published in:

Clinical Genetics, 2021, v. 99, n. 5, p. 638, doi. 10.1111/cge.13917

By:

Donohue, Katherine E.;
Gooch, Catherine;
Katz, Alexander;
Wakelee, Jessica;
Slavotinek, Anne;
Korf, Bruce R.

Publication type:

Article

Expanded phenotypic spectrum of JAG1‐associated diseases: Central conducting lymphatic anomaly with a pathogenic variant in JAG1.

Published in:

Clinical Genetics, 2021, v. 99, n. 5, p. 742, doi. 10.1111/cge.13915

By:

Li, Dong;
Sheppard, Sarah E.;
Peroutka, Christina;
Barnes, Caitlin;
Reid, Janet R.;
Smith, Christopher L.;
Dori, Yoav;
Hakonarson, Hakon

Publication type:

Article

Further delineation of the NTHL1 associated syndrome: A report from the French Oncogenetic Consortium.

Published in:

Clinical Genetics, 2021, v. 99, n. 5, p. 662, doi. 10.1111/cge.13925

By:

Boulouard, Flavie;
Kasper, Edwige;
Buisine, Marie‐Pierre;
Lienard, Gwendoline;
Vasseur, Stéphanie;
Manase, Sandrine;
Bahuau, Michel;
Barouk Simonet, Emmanuelle;
Bubien, Virginie;
Coulet, Florence;
Cusin, Véronica;
Dhooge, Marion;
Golmard, Lisa;
Goussot, Vincent;
Hamzaoui, Nadim;
Lacaze, Elodie;
Lejeune, Sophie;
Mauillon, Jacques;
Beaumont, Marie‐Pascale;
Pinson, Stéphane

Publication type:

Article

Molecular intrinsic versus clinical subtyping in breast cancer: A comprehensive review.

Published in:

Clinical Genetics, 2021, v. 99, n. 5, p. 613, doi. 10.1111/cge.13900

By:

Szymiczek, Agata;
Lone, Amna;
Akbari, Mohammad R.

Publication type:

Article

Issue Information.

Published in:: Clinical Genetics, 2021, v. 99, n. 5, p. 611, doi. 10.1111/cge.13781
Publication type:: Article