Works matching IS 00099163 AND DT 2022 AND VI 101 AND IP 2

Results: 17

Mitochondrial developmental encephalopathy with bilateral optic neuropathy related to homozygous variants in IMMT gene.

Published in:

Clinical Genetics, 2022, v. 101, n. 2, p. 233, doi. 10.1111/cge.14093

By:

Marco‐Hernández, Ana Victoria;
Tomás‐Vila, Miguel;
Montoya‐Filardi, Alejandro;
Barranco‐González, Honorio;
Vilchez Padilla, Juan Jesus;
Azorín, Inmaculada;
Smeyers Dura, Patricia;
Monfort‐Membrado, Sandra;
Pitarch‐Castellano, Inmaculada;
Martínez‐Castellano, Francisco

Publication type:

Article

Corrigendum.

Published in:: Clinical Genetics, 2022, v. 101, n. 2, p. 272, doi. 10.1111/cge.14092
Publication type:: Article

Utility of clinical exome sequencing in progressive myoclonus epilepsy syndromes: An exploratory analysis.

Published in:

Clinical Genetics, 2022, v. 101, n. 2, p. 270, doi. 10.1111/cge.14090

By:

Jose, Manna;
Poulose, Prashant;
Sundaram, Soumya;
Radhakrishnan, Ashalatha;
Nampoothiri, Sheela;
Menon, Ramshekhar N.

Publication type:

Article

Early psychosis in Thauvin‐Robinet‐Faivre syndrome, a complication of the disease?

Published in:

Clinical Genetics, 2022, v. 101, n. 2, p. 267, doi. 10.1111/cge.14089

By:

Andreou, Yanni;
Thauvin‐Robinet, Christel;
Martin, Juliette;
Faivre, Laurence;
Granon, Ophélie

Publication type:

Article

Expanding the genotypic spectrum of TXNL4A variants in Burn‐McKeown syndrome.

Published in:

Clinical Genetics, 2022, v. 101, n. 2, p. 255, doi. 10.1111/cge.14082

By:

Wood, Katherine A.;
Ellingford, Jamie M.;
Thomas, Huw B.;
Douzgou, Sofia;
Beaman, Glenda M.;
Hobson, Emma;
Prescott, Katrina;
O'Keefe, Raymond T.;
Newman, William G.

Publication type:

Article

Expanding the spectrum of syndromic PPP2R3C‐related XY gonadal dysgenesis to XX gonadal dysgenesis.

Published in:

Clinical Genetics, 2022, v. 101, n. 2, p. 221, doi. 10.1111/cge.14086

By:

Altunoglu, Umut;
Börklü, Esra;
Shukla, Anju;
Escande‐Beillard, Nathalie;
Ledig, Susanne;
Azaklı, Hülya;
Nayak, Shalini S.;
Eraslan, Serpil;
Girisha, Katta Mohan;
Kennerknecht, Ingo;
Kayserili, Hülya

Publication type:

Article

TAB2 variants cause cardiovascular heart disease, connective tissue disorder, and developmental delay.

Published in:

Clinical Genetics, 2022, v. 101, n. 2, p. 214, doi. 10.1111/cge.14085

By:

Hanson, Jennifer;
Brezavar, Daniel;
Hughes, Susan;
Amudhavalli, Shivarajan;
Fleming, Emily;
Zhou, Dihong;
Alaimo, Joseph T.;
Bonnen, Penelope E.

Publication type:

Article

DYRK1B haploinsufficiency in a family with metabolic syndrome and abnormal cognition.

Published in:

Clinical Genetics, 2022, v. 101, n. 2, p. 265, doi. 10.1111/cge.14084

By:

Orenstein, Naama;
Gofin, Yoel;
Shomron, Noam;
Ruhrman‐Shahar, Noa;
Magal, Nurit;
Hagari, Ofir;
Azulay, Noy;
Bazak, Lily;
Goldberg, Yael;
Basel‐Salmon, Lina

Publication type:

Article

Mono‐allelic loss of YTHDF3 and neurodevelopmental disorder: clinical features of four individuals with 8q12.3 deletions.

Published in:

Clinical Genetics, 2022, v. 101, n. 2, p. 208, doi. 10.1111/cge.14083

By:

Terkelsen, Thorkild;
Brasch‐Andersen, Charlotte;
Illum, Niels;
Busa, Tiffany;
Missirian, Chantal;
Chandler, Kate;
Holden, Simon T.;
Jensen, Uffe Birk;
Fagerberg, Christina R.

Publication type:

Article

Bi‐allelic variants in MDH2: Expanding the clinical phenotype.

Published in:

Clinical Genetics, 2022, v. 101, n. 2, p. 260, doi. 10.1111/cge.14088

By:

Ticci, Chiara;
Nesti, Claudia;
Rubegni, Anna;
Doccini, Stefano;
Baldacci, Jacopo;
Dal Canto, Flavio;
Ragni, Luca;
Cordelli, Duccio M.;
Donati, Maria Alice;
Santorelli, Filippo M.

Publication type:

Article

Biallelic ZNFX1 variants are associated with a spectrum of immuno‐hematological abnormalities.

Published in:

Clinical Genetics, 2022, v. 101, n. 2, p. 247, doi. 10.1111/cge.14081

By:

Alawbathani, Salem;
Westenberger, Ana;
Ordonez‐Herrera, Natalia;
Al‐Hilali, Mariam;
Al Hebby, Homoud;
Alabbas, Fahad;
Alhashem, Amal M.;
Elyamany, Ghaleb;
Megarbane, André;
Kose, Melis;
Alhashmi, Nadia;
Al Sukaiti, Nashat;
Al‐Raqad, Mohammed;
Al‐Tawalbeh, Samah;
Abu Adas Blanco, Omar;
Alkhattabi, Fadiah;
Sng, Danielle;
Al‐Ali, Ruslan;
Khan, Suliman;
Tawamie, Hasan

Publication type:

Article

A SPIDR homozygous nonsense pathogenic variant in isolated primary ovarian insufficiency with chromosomal instability.

Published in:

Clinical Genetics, 2022, v. 101, n. 2, p. 242, doi. 10.1111/cge.14080

By:

Heddar, Abdelkader;
Guichoux, Nathalie;
Auger, Nathalie;
Misrahi, Micheline

Publication type:

Article

First case series of Polish patients with cerebrotendinous xanthomatosis and systematic review of cases from the 21st century.

Published in:

Clinical Genetics, 2022, v. 101, n. 2, p. 190, doi. 10.1111/cge.14079

By:

Badura‐Stronka, Magdalena;
Hirschfeld, Adam Sebastian;
Winczewska‐Wiktor, Anna;
Budzyńska, Edyta;
Jakubiuk‐Tomaszuk, Anna;
Piontek, Anita;
Steinborn, Barbara;
Kozubski, Wojciech

Publication type:

Article

The broader phenotypic spectrum of congenital caudal abnormalities associated with mutations in the caudal type homeobox 2 gene.

Published in:

Clinical Genetics, 2022, v. 101, n. 2, p. 183, doi. 10.1111/cge.14076

By:

Stevens, Servi J. C.;
Stumpel, Constance T. R. M.;
Diderich, Karin E. M.;
van Slegtenhorst, Marjon A.;
Abbott, Mary‐Alice;
Manning, Courtney;
Balciuniene, Jorune;
Pyle, Louise C.;
Leonard, Jacqueline;
Murrell, Jill R.;
van de Putte, Romy;
van Rooij, Iris A. L. M.;
Hoischen, Alexander;
Lasko, Paul;
Brunner, Han G.

Publication type:

Article

Psychosocial interventions and needs among individuals and families with Li‐Fraumeni syndrome: A scoping review.

Published in:

Clinical Genetics, 2022, v. 101, n. 2, p. 161, doi. 10.1111/cge.14042

By:

Barnett, Marie;
Breen, Kelsey E.;
Kennedy, Jennifer A.;
Hernandez, Marisol;
Matsoukas, Konstantina;
MacGregor, Meredith

Publication type:

Article

Facioscapulohumeral muscular dystrophy—Reproductive counseling, pregnancy, and delivery in a complex multigenetic disease.

Published in:

Clinical Genetics, 2022, v. 101, n. 2, p. 149, doi. 10.1111/cge.14031

By:

Vincenten, Sanne C. C.;
Van Der Stoep, Nienke;
Paulussen, Aimée D. C.;
Mul, Karlien;
Badrising, Umesh A.;
Kriek, Marjolein;
Van Der Heijden, Olivier W. H.;
Van Engelen, Baziel G. M.;
Voermans, Nicol C.;
De Die‐Smulders, Christine E. M.;
Lassche, Saskia

Publication type:

Article

Issue Information.

Published in:: Clinical Genetics, 2022, v. 101, n. 2, p. 147, doi. 10.1111/cge.13982
Publication type:: Article