Works matching IS 00099163 AND DT 2022 AND VI 102 AND IP 1

Results: 13

SHP2's gain‐of‐function in Werner syndrome causes childhood disease onset likely resulting from negative genetic interaction.

Published in:

Clinical Genetics, 2022, v. 102, n. 1, p. 12, doi. 10.1111/cge.14140

By:

Priolo, Manuela;
Palermo, Valentina;
Aiello, Francesca;
Ciolfi, Andrea;
Pannone, Luca;
Muto, Valentina;
Motta, Marialetizia;
Mancini, Cecilia;
Radio, Francesca Clementina;
Niceta, Marcello;
Leoni, Chiara;
Pintomalli, Letizia;
Carrozzo, Rosalba;
Rajola, Giuseppe;
Mammì, Corrado;
Zampino, Giuseppe;
Martinelli, Simone;
Dallapiccola, Bruno;
Pichierri, Pietro;
Tartaglia, Marco

Publication type:

Article

The clinical and biochemical hallmarks generally associated with GLUT1DS may be caused by defects in genes other than SLC2A1.

Published in:

Clinical Genetics, 2022, v. 102, n. 1, p. 40, doi. 10.1111/cge.14138

By:

Sánchez‐Lijarcio, Obdulia;
Yubero, Delia;
Leal, Fátima;
Couce, María L.;
González Gutiérrez‐Solana, Luis;
López‐Laso, Eduardo;
García‐Cazorla, Àngels;
Pías‐Peleteiro, Leticia;
de Azua Brea, Begoña;
Ibáñez‐Micó, Salvador;
Mateo‐Martínez, Gonzalo;
Troncoso‐Schifferli, Monica;
Witting‐Enriquez, Scarlet;
Ugarte, Magdalena;
Artuch, Rafael;
Pérez, Belén

Publication type:

Article

Genetic clinicians' confidence in BOADICEA comprehensive breast cancer risk estimates and counselees' psychosocial outcomes: A prospective study.

Published in:

Clinical Genetics, 2022, v. 102, n. 1, p. 30, doi. 10.1111/cge.14147

By:

Brédart, Anne;
De Pauw, Antoine;
Tüchler, Anja;
Lakeman, Inge M. M.;
Anota, Amélie;
Rhiem, Kerstin;
Schmutzler, Rita;
van Asperen, Christi J.;
Devilee, Peter;
Stoppa‐Lyonnet, Dominique;
Kop, Jean‐Luc;
Dolbeault, Sylvie

Publication type:

Article

A recurrent ZP1 variant is responsible for oocyte maturation defect with degenerated oocytes in infertile females.

Published in:

Clinical Genetics, 2022, v. 102, n. 1, p. 22, doi. 10.1111/cge.14144

By:

Loeuillet, Corinne;
Dhellemmes, Magali;
Cazin, Caroline;
Kherraf, Zine‐Eddine;
Fourati Ben Mustapha, Selima;
Zouari, Raoudha;
Thierry‐Mieg, Nicolas;
Arnoult, Christophe;
Ray, Pierre F.

Publication type:

Article

A novel c.952T>C mutation in Notch3 gene in a patient with chronic non‐migraine‐like headache: Expanding the genotypic spectrum of CADASIL?

Published in:

Clinical Genetics, 2022, v. 102, n. 1, p. 82, doi. 10.1111/cge.14137

By:

Scala, Irene;
Piane, Maria;
Frisullo, Giovanni;
Marotta, Jessica;
Bellavia, Simone;
Rizzo, Pier Andrea;
Rollo, Eleonora;
Vollono, Catello;
Pizzuti, Antonio;
Brunetti, Valerio;
Della Marca, Giacomo

Publication type:

Article

IQSEC2‐related encephalopathy in males due to missense variants in the pleckstrin homology domain.

Published in:

Clinical Genetics, 2022, v. 102, n. 1, p. 72, doi. 10.1111/cge.14136

By:

Shoubridge, Cheryl;
Dudding‐Byth, Tracy;
Pasquier, Laurent;
Goel, Himanshu;
Yap, Patrick;
McConnell, Vivienne

Publication type:

Article

CCDC82 frameshift mutation associated with intellectual disability, spastic paraparesis, and dysmorphic features.

Published in:

Clinical Genetics, 2022, v. 102, n. 1, p. 80, doi. 10.1111/cge.14135

By:

Bauer, Gregor;
Buchert, Rebecca;
Haack, Tobias B.;
Harting, Inga;
Gutschalk, Alexander

Publication type:

Article

Expanding genotypic and phenotypic spectrums of LTBP3 variants in dental anomalies and short stature syndrome.

Published in:

Clinical Genetics, 2022, v. 102, n. 1, p. 66, doi. 10.1111/cge.14134

By:

Kantaputra, Piranit;
Guven, Yeliz;
Kalayci, Tugba;
Özer, Pelin Karaca;
Panyarak, Wannakamon;
Intachai, Worrachet;
Olsen, Bjorn;
Carlson, Bruce M.;
Praditsap, Oranud;
Tongsima, Sissades;
Ngamphiw, Chumpol;
Jatooratthawichot, Peeranat;
Tucker, Abigail S.;
Ketudat Cairns, James R.

Publication type:

Article

De novo heterozygous variants in KIF5B cause kyphomelic dysplasia.

Published in:

Clinical Genetics, 2022, v. 102, n. 1, p. 3, doi. 10.1111/cge.14133

By:

Itai, Toshiyuki;
Wang, Zheng;
Nishimura, Gen;
Ohashi, Hirofumi;
Guo, Long;
Wakano, Yasuhiro;
Sugiura, Takahiro;
Hayakawa, Hiromi;
Okada, Mayumi;
Saisu, Takashi;
Kitta, Ayana;
Doi, Hiroshi;
Kurosawa, Kenji;
Hotta, Yoshihiro;
Hosono, Katsuhiro;
Sato, Miho;
Shimizu, Kenji;
Takikawa, Kazuharu;
Watanabe, Seiji;
Ikeda, Naho

Publication type:

Article

Spinal muscular atrophy with congenital bone fractures 2 caused by a rare loss‐of‐function ASCC1 gene mutation in two Bulgarian Roma patients.

Published in:

Clinical Genetics, 2022, v. 102, n. 1, p. 78, doi. 10.1111/cge.14130

By:

Bradinova, Irena;
Andonova, Silvia;
Vazharova, Radoslava;
Tomova, Stiliyana;
Balabanski, Lubomir;
Savov, Alexey

Publication type:

Article

A null founder variant in NPNT, encoding nephronectin, causes autosomal recessive renal agenesis.

Published in:

Clinical Genetics, 2022, v. 102, n. 1, p. 61, doi. 10.1111/cge.14128

By:

Al‐Hamed, Mohamed H.;
Altuwaijri, Norah;
Alsahan, Nada;
Ali, Wafaa;
Abdulwahab, Firdous;
Alzahrani, Fatema;
Majrashi, Nada;
Alkuraya, Fowzan S.

Publication type:

Article

A novel homozygous variant in COX5A causes an attenuated phenotype with failure to thrive, lactic acidosis, hypoglycemia, and short stature.

Published in:

Clinical Genetics, 2022, v. 102, n. 1, p. 56, doi. 10.1111/cge.14127

By:

Torraco, Alessandra;
Morlino, Silvia;
Rizza, Teresa;
Di Nottia, Michela;
Bottaro, Giorgia;
Bisceglia, Luigi;
Montanari, Arianna;
Cappa, Marco;
Castori, Marco;
Bertini, Enrico;
Carrozzo, Rosalba

Publication type:

Article

Issue Information.

Published in:: Clinical Genetics, 2022, v. 102, n. 1, p. 1, doi. 10.1111/cge.13987
Publication type:: Article