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

Results: 17

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
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
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
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
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
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
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
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