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
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
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
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
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
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
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
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
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
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
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
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
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
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
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