Works matching IS 00099163 AND DT 2022 AND VI 101 AND IP 3

Results: 14

A splice site mutation in the TSEN2 causes a new syndrome with craniofacial and central nervous system malformations, and atypical hemolytic uremic syndrome.

Published in:

Clinical Genetics, 2022, v. 101, n. 3, p. 346, doi. 10.1111/cge.14105

By:

Canpolat, Nur;
Liu, Dingxiao;
Atayar, Emine;
Saygili, Seha;
Kara, Nazli Sila;
Westfall, Trudi A.;
Ding, Qiong;
Brown, Bartley J.;
Braun, Terry A.;
Slusarski, Diane;
Karli Oguz, Kader;
Ozluk, Yasemin;
Tuysuz, Beyhan;
Tastemel Ozturk, Tugba;
Sever, Lale;
Sezerman, Osman Ugur;
Topaloglu, Rezan;
Caliskan, Salim;
Attanasio, Massimo;
Ozaltin, Fatih

Publication type:

Article

Pathogenic "germline" variants associated with myeloproliferative disorders in apparently normal individuals: Inherited or acquired genetic alterations?

Published in:

Clinical Genetics, 2022, v. 101, n. 3, p. 371, doi. 10.1111/cge.14104

By:

Veitia, Reiner A.;
Innan, Hideki

Publication type:

Article

Divergent variant patterns among 19 patients with Rubinstein‐Taybi syndrome uncovered by comprehensive genetic analysis including whole genome sequencing.

Published in:

Clinical Genetics, 2022, v. 101, n. 3, p. 335, doi. 10.1111/cge.14103

By:

Enomoto, Yumi;
Yokoi, Takayuki;
Tsurusaki, Yoshinori;
Murakami, Hiroaki;
Tominaga, Makiko;
Minatogawa, Mari;
Abe‐Hatano, Chihiro;
Kuroda, Yukiko;
Ohashi, Ikuko;
Ida, Kazumi;
Shiiya, Shizuka;
Kumaki, Tatsuro;
Naruto, Takuya;
Mitsui, Jun;
Harada, Noriaki;
Kido, Yasuhiro;
Kurosawa, Kenji

Publication type:

Article

Neurodevelopmental phenotype in 36 new patients with 8p inverted duplication–deletion: Genotype–phenotype correlation for anomalies of the corpus callosum.

Published in:

Clinical Genetics, 2022, v. 101, n. 3, p. 307, doi. 10.1111/cge.14096

By:

Vibert, Roseline;
Mignot, Cyril;
Keren, Boris;
Chantot‐Bastaraud, Sandra;
Portnoï, Marie‐France;
Nouguès, Marie‐Christine;
Moutard, Marie‐Laure;
Faudet, Anne;
Whalen, Sandra;
Haye, Damien;
Garel, Catherine;
Chatron, Nicolas;
Rossi, Massimiliano;
Vincent‐Delorme, Catherine;
Boute, Odile;
Delobel, Bruno;
Andrieux, Joris;
Devillard, Françoise;
Coutton, Charles;
Puechberty, Jacques

Publication type:

Article

Duane retraction syndrome characterized by inner ear agenesis and neurodevelopmental phenotype in an Italian family with a variant in MAFB.

Published in:

Clinical Genetics, 2022, v. 101, n. 3, p. 377, doi. 10.1111/cge.14101

By:

Pascolini, Giulia;
Passarelli, Chiara;
Lipari, Martina;
Chandramouli, Balasubramanian;
Chillemi, Giovanni;
Di Giosaffatte, Niccolo';
Novelli, Antonio;
Grammatico, Paola

Publication type:

Article

Rare and de novo duplications containing TCF20 are associated with a neurodevelopmental disorder.

Published in:

Clinical Genetics, 2022, v. 101, n. 3, p. 364, doi. 10.1111/cge.14099

By:

Lévy, Jonathan;
Cogan, Guillaume;
Maruani, Anna;
Maillard, Arnaud;
Dupont, Céline;
Drunat, Séverine;
Rachid, Myriam;
Atzori, Paola;
Delorme, Richard;
Jeyarajah, Sabatini;
Isidor, Bertrand;
Pichon, Olivier;
Moradkhani, Kamran;
Verloes, Alain;
Tabet, Anne‐Claude

Publication type:

Article

Clinical utility of liquid biopsy in breast cancer: A systematic review.

Published in:

Clinical Genetics, 2022, v. 101, n. 3, p. 285, doi. 10.1111/cge.14077

By:

Duque, Galo;
Manterola, Carlos;
Otzen, Tamara;
Arias, Cristina;
Galindo, Bryan;
Mora, Miriann;
Guerrero, Enmanuel;
García, Nayeli

Publication type:

Article

Genetic counseling and testing for hereditary hemorrhagic telangiectasia.

Published in:

Clinical Genetics, 2022, v. 101, n. 3, p. 275, doi. 10.1111/cge.14050

By:

Lam, Shravika;
Guthrie, Kelsey S.;
Latif, Muhammad A.;
Weiss, Clifford R.

Publication type:

Article

The risks of breast and ovarian cancer associated with the Ashkenazi Jewish founder allele BRCA2 6174delT.

Published in:

Clinical Genetics, 2022, v. 101, n. 3, p. 317, doi. 10.1111/cge.14098

By:

Finch, Amy;
Metcalfe, Kelly;
Akbari, Mohammad;
Friedman, Eitan;
Tung, Nadine;
Rosen, Barry;
Eisen, Andrea;
Karlan, Beth;
Foulkes, William;
Neuhausen, Susan L.;
Senter, Leigha;
McKinnon, Wendy;
Elser, Christine;
Sun, Ping;
Narod, Steven A.

Publication type:

Article

Factors influencing genetic counseling and testing for hereditary breast and ovarian cancer syndrome in a large US health care system.

Published in:

Clinical Genetics, 2022, v. 101, n. 3, p. 324, doi. 10.1111/cge.14100

By:

Powell, C. Bethan;
Laurent, Cecile;
Garcia, Christine;
Hoodfar, Elizabeth;
Karlea, Audrey;
Kobelka, Christine;
Lee, Jaimie;
Roh, Janise;
Kushi, Lawrence H.

Publication type:

Article

Embryonal sarcoma of the liver in a girl with Cockayne syndrome.

Published in:

Clinical Genetics, 2022, v. 101, n. 3, p. 375, doi. 10.1111/cge.14094

By:

Thorbinson, Colin;
Penn, Anthony;
Nicola, Pantelis;
Hardcastle, Claire;
Waller, Sarah;
Ramsden, Simon;
Coorens, Tim H. H.;
Tang, Vivian;
Cheesman, Edmund;
Douzgou, Sofia;
Meyer, Stefan

Publication type:

Article

Issue Information.

Published in:: Clinical Genetics, 2022, v. 101, n. 3, p. 273, doi. 10.1111/cge.13983
Publication type:: Article

A homozygous ABHD16A variant causes a complex hereditary spastic paraplegia with developmental delay, absent speech, and characteristic face.

Published in:

Clinical Genetics, 2022, v. 101, n. 3, p. 359, doi. 10.1111/cge.14097

By:

Miyake, Noriko;
Silva, Sebastián;
Troncoso, Mónica;
Okamoto, Nobuhiko;
Andachi, Yoshiki;
Kato, Mitsuhiro;
Iwabuchi, Chisato;
Hirose, Mio;
Fujita, Atsushi;
Uchiyama, Yuri;
Matsumoto, Naomichi

Publication type:

Article

Segmental undergrowth is associated with pathogenic variants in vascular malformation genes: A retrospective case‐series study.

Published in:

Clinical Genetics, 2022, v. 101, n. 3, p. 296, doi. 10.1111/cge.14095

By:

Martinez‐Glez, Victor;
Rodriguez‐Laguna, Lara;
Viana‐Huete, Vanesa;
García Torrijos, Carolina;
Hurtado, Begoña;
Lapunzina, Pablo;
Triana, Paloma;
López‐Gutiérrez, Juan Carlos

Publication type:

Article