Works matching IS 00099163 AND DT 2020 AND VI 97 AND IP 4

Results: 22

Front Cover.

Published in:

Clinical Genetics, 2020, v. 97, n. 4, p. i, doi. 10.1111/cge.13733

By:

Pascual‐Alonso, Ainhoa;
Blasco, Laura;
Vidal, Silvia;
Gean, Esther;
Rubio, Patricia;
O'Callaghan, Mar;
Martínez‐Monseny, Antonio F.;
Castells, Alba Aina;
Xiol, Clara;
Català, Vicenç;
Brandi, Nuria;
Pacheco, Paola;
Ros, Carlota;
Campo, Miguel;
Guillén, Encarna;
Ibañez, Salva;
Sánchez, María J.;
Lapunzina, Pablo;
Nevado, Julián;
Santos, Fernando

Publication type:

Article

Genetic basis of neurodevelopmental disorders in 103 Jordanian families.

Published in:

Clinical Genetics, 2020, v. 97, n. 4, p. 621, doi. 10.1111/cge.13720

By:

Froukh, Tawfiq;
Nafie, Omar;
Al Hait, Sana' A. S.;
Laugwitz, Lucia;
Sommerfeld, Julia;
Sturm, Marc;
Baraghiti, Aya;
Issa, Tala;
Al‐Nazer, Anis;
Koch, Philipp A.;
Hanselmann, Johannes;
Kootz, Beate;
Bauer, Peter;
Al‐Ameri, Wael;
Abou Jamra, Rami;
Alfrook, Ayman J.;
Hamadallah, Moath;
Sofan, Linda;
Riess, Angelika;
Haack, Tobias B.

Publication type:

Article

Molecular characterization of Spanish patients with MECP2 duplication syndrome.

Published in:

Clinical Genetics, 2020, v. 97, n. 4, p. 610, doi. 10.1111/cge.13718

By:

Pascual‐Alonso, Ainhoa;
Blasco, Laura;
Vidal, Silvia;
Gean, Esther;
Rubio, Patricia;
O'Callaghan, Mar;
Martínez‐Monseny, Antonio F.;
Castells, Alba Aina;
Xiol, Clara;
Català, Vicenç;
Brandi, Nuria;
Pacheco, Paola;
Ros, Carlota;
Campo, Miguel;
Guillén, Encarna;
Ibañez, Salva;
Sánchez, María J.;
Lapunzina, Pablo;
Nevado, Julián;
Santos, Fernando

Publication type:

Article

Longitudinal outcomes with cancer multigene panel testing in previously tested BRCA1/2 negative patients.

Published in:

Clinical Genetics, 2020, v. 97, n. 4, p. 601, doi. 10.1111/cge.13716

By:

Bradbury, Angela R.;
Egleston, Brian L.;
Patrick‐Miller, Linda J.;
Rustgi, Neil;
Brandt, Amanda;
Brower, Jamie;
DiGiovanni, Laura;
Fetzer, Dominique;
Berkelbach, Christopher;
Long, Jessica M.;
Powers, Jacquelyn;
Stopfer, Jill E.;
Domchek, Susan M.

Publication type:

Article

LEF1 haploinsufficiency causes ectodermal dysplasia.

Published in:

Clinical Genetics, 2020, v. 97, n. 4, p. 595, doi. 10.1111/cge.13714

By:

Lévy, Jonathan;
Capri, Yline;
Rachid, Myriam;
Dupont, Céline;
Vermeesch, Joris R.;
Devriendt, Koen;
Verloes, Alain;
Tabet, Anne‐Claude;
Bailleul‐Forestier, Isabelle

Publication type:

Article

Genetic heterogeneity in Leigh syndrome: Highlighting treatable and novel genetic causes.

Published in:

Clinical Genetics, 2020, v. 97, n. 4, p. 586, doi. 10.1111/cge.13713

By:

Lee, Jin Sook;
Yoo, Taekyeong;
Lee, Moses;
Lee, Youngha;
Jeon, Eunyoung;
Kim, Soo Yeon;
Lim, Byung Chan;
Kim, Ki Joong;
Choi, Murim;
Chae, Jong‐Hee

Publication type:

Article

Expanding the clinical and molecular spectrum of lethal congenital contracture syndrome 8 associated with biallelic variants of ADCY6.

Published in:

Clinical Genetics, 2020, v. 97, n. 4, p. 649, doi. 10.1111/cge.13691

By:

Agolini, Emanuele;
Cherchi, Claudio;
Bellacchio, Emanuele;
Martinelli, Diego;
Cocciadiferro, Dario;
Cutrera, Renato;
Chiarini Testa, Maria B.;
Barone, Chiara;
Bianca, Sebastiano;
Novelli, Antonio

Publication type:

Article

Is BRCA2 involved in early onset colorectal cancer risk?

Published in:

Clinical Genetics, 2020, v. 97, n. 4, p. 668, doi. 10.1111/cge.13679

By:

Gay‐Bellile, Mathilde;
Privat, Maud;
Martins, Alexandra;
Caputo, Sandrine M.;
Pebrel‐Richard, Céline;
Cavaillé, Mathias;
Viala, Sandrine;
Corsini, Carole;
Rodrigues, Michael;
Barnich, Nicolas;
Bidet, Yannick;
Uhrhammer, Nancy;
Bignon, Yves‐Jean

Publication type:

Article

Identification of FOXH1 mutations in patients with sporadic conotruncal heart defect.

Published in:

Clinical Genetics, 2020, v. 97, n. 4, p. 576, doi. 10.1111/cge.13710

By:

Wei, Wei;
Li, Bojian;
Li, Fen;
Sun, Kun;
Jiang, Xuechao;
Xu, Rang

Publication type:

Article

Confirming the recessive inheritance of PERP‐related erythrokeratoderma.

Published in:

Clinical Genetics, 2020, v. 97, n. 4, p. 661, doi. 10.1111/cge.13699

By:

Patel, Nisha;
Alkeraye, Salim;
Alobeid, Eman;
Alshidi, Tarfa;
Helaby, Rana;
Abdulwahab, Firdous;
Shamseldin, Hanan E.;
Alkuraya, Fowzan S.

Publication type:

Article

The p.Arg377Trp variant in ACTL6A underlines a recognizable BAF‐opathy phenotype.

Published in:

Clinical Genetics, 2020, v. 97, n. 4, p. 672, doi. 10.1111/cge.13682

By:

Pascolini, Giulia;
Agolini, Emanuele;
Novelli, Antonio;
Majore, Silvia;
Grammatico, Paola

Publication type:

Article

New evidence that biallelic loss of function in EEF1B2 gene leads to intellectual disability.

Published in:

Clinical Genetics, 2020, v. 97, n. 4, p. 639, doi. 10.1111/cge.13688

By:

Larcher, Lise;
Buratti, Julien;
Héron‐Longe, Bénédicte;
Benzacken, Brigitte;
Pipiras, Eva;
Keren, Boris;
Delahaye‐Duriez, Andrée

Publication type:

Article

Report of the first patient with a homozygous OTUD7A variant responsible for epileptic encephalopathy and related proteasome dysfunction.

Published in:

Clinical Genetics, 2020, v. 97, n. 4, p. 567, doi. 10.1111/cge.13709

By:

Garret, Philippine;
Ebstein, Frédéric;
Delplancq, Geoffroy;
Dozieres‐Puyravel, Blandine;
Boughalem, Aïcha;
Auvin, Stéphane;
Duffourd, Yannis;
Klafack, Sandro;
Zieba, Barbara A.;
Mahmoudi, Sana;
Singh, Karun K.;
Duplomb, Laurence;
Thauvin‐Robinet, Christel;
Costa, Jean‐Marc;
Krüger, Elke;
Trost, Detlef;
Verloes, Alain;
Faivre, Laurence;
Vitobello, Antonio

Publication type:

Article

Variants in NGLY1 lead to intellectual disability, myoclonus epilepsy, sensorimotor axonal polyneuropathy and mitochondrial dysfunction.

Published in:

Clinical Genetics, 2020, v. 97, n. 4, p. 556, doi. 10.1111/cge.13706

By:

Panneman, Daan M.;
Wortmann, Saskia B.;
Haaxma, Charlotte A.;
Hasselt, Peter M.;
Wolf, Nicole I.;
Hendriks, Yvonne;
Küsters, Benno;
Emst‐de Vries, Sjenet;
Westerlo, Els;
Koopman, Werner J.H.;
Wintjes, Liesbeth;
Brandt, Frans;
Vries, Maaike;
Lefeber, Dirk J.;
Smeitink, Jan A.M.;
Rodenburg, Richard J.

Publication type:

Article

Widening the spectrum of genetic testing in familial hypercholesterolaemia: Will it translate into better patient and population outcomes?

Published in:

Clinical Genetics, 2020, v. 97, n. 4, p. 543, doi. 10.1111/cge.13685

By:

Page, Michael M.;
Bell, Damon A.;
Watts, Gerald F.

Publication type:

Article

Diagnostic strategy for females suspected of Fabry disease.

Published in:

Clinical Genetics, 2020, v. 97, n. 4, p. 655, doi. 10.1111/cge.13694

By:

Balendran, Sukirthini;
Oliva, Petra;
Sansen, Stefaan;
Mechtler, Thomas P.;
Streubel, Berthold;
Cobos, Paulina N.;
Lukacs, Zoltan;
Kasper, David C.

Publication type:

Article

Occurrence and characterization of medulloblastoma in a patient with Curry‐Jones syndrome.

Published in:

Clinical Genetics, 2020, v. 97, n. 4, p. 670, doi. 10.1111/cge.13681

By:

Porath, Binu;
Farooki, Sana;
Gener, Melissa;
Amudhavalli, Shivarajan Manickavasagam;
Grote, Lauren;
Cooley, Linda D.;
Ginn, Kevin;
Farooqi, Midhat S.

Publication type:

Article

VPS26C homozygous nonsense variant in two cousins with neurodevelopmental deficits, growth failure, skeletal abnormalities, and distinctive facial features.

Published in:

Clinical Genetics, 2020, v. 97, n. 4, p. 644, doi. 10.1111/cge.13690

By:

Beetz, Christian;
Ameziane, Najim;
Kdissa, Ameni;
Karageorgou, Vasiliki;
Bauer, Peter;
Suleiman, Jehan;
Sutton, V. Reid;
El‐Hattab, Ayman W.

Publication type:

Article

Missense mutations in SLC25A1 are associated with congenital myasthenic syndrome type 23.

Published in:

Clinical Genetics, 2020, v. 97, n. 4, p. 666, doi. 10.1111/cge.13678

By:

Al‐Futaisi, Amna;
Ahmad, Faraz;
Al‐Kasbi, Ghalia;
Al‐Thihli, Khalid;
Koul, Roshan;
Al‐Maawali, Almundher

Publication type:

Article

Adult onset tubulo‐interstitial nephropathy in MT‐ND5‐related phenotypes.

Published in:

Clinical Genetics, 2020, v. 97, n. 4, p. 628, doi. 10.1111/cge.13670

By:

Bakis, Hugo;
Trimouille, Aurélien;
Vermorel, Agathe;
Redonnet, Isabelle;
Goizet, Cyril;
Boulestreau, Romain;
Lacombe, Didier;
Combe, Christian;
Martin‐Négrier, Marie‐Laure;
Rigothier, Claire

Publication type:

Article

Issue Information – Editorial Board.

Published in:: Clinical Genetics, 2020, v. 97, n. 4, p. 541, doi. 10.1111/cge.13570
Publication type:: Article

Null variants in AGRN cause lethal fetal akinesia deformation sequence.

Published in:

Clinical Genetics, 2020, v. 97, n. 4, p. 634, doi. 10.1111/cge.13677

By:

Geremek, Maciej;
Dudarewicz, Lech;
Obersztyn, Ewa;
Paczkowska, Magdalena;
Smyk, Marta;
Sobecka, Katarzyna;
Nowakowska, Beata

Publication type:

Article