Works matching IS 00099163 AND DT 2021 AND VI 99 AND IP 6

Results: 17

Novel pathogenic variants in NLRP7, NLRP5, and PADI6 in patients with recurrent hydatidiform moles and reproductive failure.

Published in:

Clinical Genetics, 2021, v. 99, n. 6, p. 823, doi. 10.1111/cge.13941

By:

Rezaei, Maryam;
Suresh, Beena;
Bereke, Eric;
Hadipour, Zahra;
Aguinaga, Monica;
Qian, Jianhua;
Bagga, Rashmi;
Fardaei, Majid;
Hemida, Reda;
Jagadeesh, Sujatha;
Majewski, Jacek;
Slim, Rima

Publication type:

Article

Clinical insights and molecular study of three foetuses with DYNC2H1 gene mutation causing short rib thoracic dystrophy.

Published in:

Clinical Genetics, 2021, v. 99, n. 6, p. 853, doi. 10.1111/cge.13953

By:

Thakur, Seema;
Gupta, Rachna;
Bansal, Deepak;
Singh, Chanchal;
Agarwal, Divya;
Saxena, Kamal Kant

Publication type:

Article

Featured Cover.

Published in:

Clinical Genetics, 2021, v. 99, n. 6, p. 1, doi. 10.1111/cge.13971

By:

Rezaei, Maryam;
Suresh, Beena;
Bereke, Eric;
Hadipour, Zahra;
Aguinaga, Monic;
Qian, Jianhua;
Bagga, Rashmi;
Fardaei, Majid;
Hemida, Reda;
Jagadeesh, Sujatha;
Majewski, Jacek;
Slim, Rima

Publication type:

Article

Expansion of the clinical and molecular spectrum of an XPD‐related disorder linked to biallelic mutations in ERCC2 gene.

Published in:

Clinical Genetics, 2021, v. 99, n. 6, p. 842, doi. 10.1111/cge.13957

By:

Agolini, Emanuele;
Botta, Elena;
Lodi, Mariachiara;
Digilio, Maria Cristina;
Rinelli, Martina;
Bellacchio, Emanuele;
Alesi, Viola;
Nardo, Tiziana;
Zambruno, Giovanna;
Orioli, Donata;
Alessi, Iside;
Boccuto, Luigi;
Rossi, Sabrina;
Carai, Andrea;
Colafati, Giovanna Stefania;
Cacchione, Antonella;
Dallapiccola, Bruno;
Novelli, Antonio;
Mastronuzzi, Angela

Publication type:

Article

Heterozygous NOTCH1 deletion associated with variable congenital heart defects.

Published in:

Clinical Genetics, 2021, v. 99, n. 6, p. 836, doi. 10.1111/cge.13948

By:

Roifman, Maian;
Chung, Brian Hon Yin;
Reid, Diane Myles;
Teitelbaum, Ronni;
Martin, Nicole;
Nield, Lynne E.;
Thompson, Megan;
Shannon, Patrick;
Chitayat, David

Publication type:

Article

Clinical and molecular delineation of spondylocostal dysostosis type 3.

Published in:

Clinical Genetics, 2021, v. 99, n. 6, p. 851, doi. 10.1111/cge.13952

By:

Schuhmann, Sarah;
Koller, Heiko;
Sticht, Heinrich;
Kraus, Cornelia;
Krumbiegel, Mandy;
Uebe, Steffen;
Ekici, Arif B.;
Reis, André;
Thiel, Christian T.

Publication type:

Article

Mapping leprosy‐associated coding variants of interleukin genes by targeted sequencing.

Published in:

Clinical Genetics, 2021, v. 99, n. 6, p. 802, doi. 10.1111/cge.13945

By:

Zhang, Deng‐Feng;
Li, Hui‐Long;
Zheng, Quanzhen;
Bi, Rui;
Xu, Min;
Wang, Dong;
Zhu, Guo‐Ping;
Li, Yu‐Ye;
Yao, Yong‐Gang

Publication type:

Article

Improving clinical interpretation of five KRIT1 and PDCD10 intronic variants.

Published in:

Clinical Genetics, 2021, v. 99, n. 6, p. 829, doi. 10.1111/cge.13944

By:

Fusco, Carmela;
Nardella, Grazia;
Petracca, Antonio;
Ronchi, Dario;
Paciello, Nicola;
Di Giacomo, Marilena;
Gambardella, Stefano;
Lanfranconi, Silvia;
Zampatti, Stefania;
D'Agruma, Leonardo;
Micale, Lucia;
Castori, Marco

Publication type:

Article

FARS1‐related disorders caused by bi‐allelic mutations in cytosolic phenylalanyl‐tRNA synthetase genes: Look beyond the lungs!

Published in:

Clinical Genetics, 2021, v. 99, n. 6, p. 789, doi. 10.1111/cge.13943

By:

Schuch, Luise A.;
Forstner, Maria;
Rapp, Christina K.;
Li, Yang;
Smith, Desiree E. C.;
Mendes, Marisa I.;
Delhommel, Florent;
Sattler, Michael;
Emiralioğlu, Nagehan;
Taskiran, Ekim Z.;
Orhan, Diclehan;
Kiper, Nural;
Rohlfs, Meino;
Jeske, Tim;
Hastreiter, Maximilian;
Gerstlauer, Michael;
Torrent‐Vernetta, Alba;
Moreno‐Galdó, Antonio;
Kammer, Birgit;
Brasch, Frank

Publication type:

Article

Immune deficiency, autoimmune disease and intellectual disability: A pleiotropic disorder caused by biallelic variants in the TPP2 gene.

Published in:

Clinical Genetics, 2021, v. 99, n. 6, p. 780, doi. 10.1111/cge.13942

By:

Atallah, Isis;
Quinodoz, Mathieu;
Campos‐Xavier, Belinda;
Peter, Virginie G.;
Fouriki, Athina;
Bonvin, Christophe;
Bottani, Armand;
Kumps, Camille;
Angelini, Federica;
Bellutti Enders, Felicitas;
Christen‐Zaech, Stéphanie;
Rizzi, Mattia;
Renella, Raffaele;
Beck‐Popovic, Maja;
Poloni, Claudia;
Frossard, Valérie;
Blouin, Jean‐Louis;
Rivolta, Carlo;
Riccio, Orbicia;
Candotti, Fabio

Publication type:

Article

Fragile X premutation and associated health conditions: A review.

Published in:

Clinical Genetics, 2021, v. 99, n. 6, p. 751, doi. 10.1111/cge.13924

By:

Tassanakijpanich, Nattaporn;
Hagerman, Randi J.;
Worachotekamjorn, Juthamas

Publication type:

Article

Issue Information.

Published in:: Clinical Genetics, 2021, v. 99, n. 6, p. 749, doi. 10.1111/cge.13782
Publication type:: Article

Keratoconus in a patient with B3GALT6‐related disorder.

Published in:

Clinical Genetics, 2021, v. 99, n. 6, p. 849, doi. 10.1111/cge.13940

By:

Descartes, Maria;
Melenevsky, Yulia V.;
Rudy, Natasha;
Smith, Kirstin;
Callaway, Kaitlin;
Parker, Jack S.

Publication type:

Article

Health‐related quality of life in adults with osteogenesis imperfecta.

Published in:

Clinical Genetics, 2021, v. 99, n. 6, p. 772, doi. 10.1111/cge.13939

By:

Murali, Chaya N.;
Slater, Brady;
Musaad, Salma;
Cuthbertson, David;
Nguyen, Dianne;
Turner, Alicia;
Azamian, Mahshid;
Tosi, Laura;
Rauch, Frank;
Sutton, V. Reid;
Lee, Brendan;
Nagamani, Sandesh C. S.

Publication type:

Article

Forty‐seven pathogenic variants causing autosomal recessive disorders are shared by Israeli and Saudi Arabian Arabs.

Published in:

Clinical Genetics, 2021, v. 99, n. 6, p. 818, doi. 10.1111/cge.13938

By:

Zlotogora, Joël

Publication type:

Article

TBL1XR1 associated intellectual disability, a new missense variant with dysmorphic features plus autism: Expanding the phenotypic spectrum.

Published in:

Clinical Genetics, 2021, v. 99, n. 6, p. 812, doi. 10.1111/cge.13937

By:

Arroyo Carrera, Ignacio;
Fernández‐Burriel, Miguel;
Lapunzina, Pablo;
Tenorio, Jair Antonio;
García Navas, Verónica Deyanira;
Márquez Isidro, Elena

Publication type:

Article

Accuracy diagnosis improvement of Fabry disease from dried blood spots: Enzyme activity, lyso‐Gb3 accumulation and GLA gene sequencing.

Published in:

Clinical Genetics, 2021, v. 99, n. 6, p. 761, doi. 10.1111/cge.13936

By:

Delarosa‐Rodríguez, Rocío;
Santotoribio, José D.;
Paula, Hernández‐Arévalo;
González‐Meneses, Antonio;
García‐Morillo, Salvador;
Jiménez‐Arriscado, Pilar;
Guerrero, Juan M.;
Macher, Hada C.

Publication type:

Article