Works matching IS 00099163 AND DT 2018 AND VI 94 AND IP 6

Results: 18

GRIN2D variants in three cases of developmental and epileptic encephalopathy.

Published in:

Clinical Genetics, 2018, v. 94, n. 6, p. 538, doi. 10.1111/cge.13454

By:

Tsuchida, Naomi;
Hamada, Keisuke;
Shiina, Masaaki;
Kato, Mitsuhiro;
Kobayashi, Yu;
Tohyama, Jun;
Kimura, Kazue;
Hoshino, Kyoko;
Ganesan, Vigneswari;
Teik, Keng W.;
Nakashima, Mitsuko;
Mitsuhashi, Satomi;
Mizuguchi, Takeshi;
Takata, Atsushi;
Miyake, Noriko;
Saitsu, Hirotomo;
Ogata, Kazuhiro;
Miyatake, Satoko;
Matsumoto, Naomichi

Publication type:

Article

A null variant in PUS3 confirms its involvement in intellectual disability and further delineates the associated neurodevelopmental disease.

Published in:

2018

By:

Abdelrahman, Hanadi A.;
Al‐Shamsi, Aisha M.;
Ali, Bassam R.;
Al‐Gazali, Lihadh

Publication type:

Letter to the Editor

Genotype and phenotype analysis using an epilepsy‐associated gene panel in Chinese pediatric epilepsy patients.

Published in:

Clinical Genetics, 2018, v. 94, n. 6, p. 512, doi. 10.1111/cge.13441

By:

Miao, Pu;
Feng, Jianhua;
Guo, Yufan;
Wang, Jianda;
Xu, Xiaoxiao;
Wang, Ye;
Li, Yanfang;
Gao, Liuyan;
Zheng, Chaoguang;
Cheng, Haiying

Publication type:

Article

Extending the clinical phenotype associated with biallelic NTHL1 germline mutations.

Published in:

2018

By:

Fostira, Florentia;
Kontopodis, Emmanouil;
Apostolou, Paraskevi;
Fragkaki, Maria;
Androulakis, Nikolaos;
Yannoukakos, Drakoulis;
Konstantopoulou, Irene;
Saloustros, Emmanouil

Publication type:

Letter to the Editor

Front Cover.

Published in:

Clinical Genetics, 2018, v. 94, n. 6, p. i, doi. 10.1111/cge.13478

By:

Kvarnung, Malin;
Taylan, Fulya;
Nilsson, Daniel;
Anderlid, Britt‐Marie;
Malmgren, Helena;
Lagerstedt‐Robinson, Kristina;
Holmberg, Eva;
Burstedt, Magnus;
Nordenskjöld, Magnus;
Nordgren, Ann;
Lundberg, Elisabeth S.

Publication type:

Article

Neurodevelopmental phenotype caused by a de novo PTPN4 single nucleotide variant disrupting protein localization in neuronal dendritic spines.

Published in:

Clinical Genetics, 2018, v. 94, n. 6, p. 581, doi. 10.1111/cge.13450

By:

Szczałuba, Krzysztof;
Chmielewska, Joanna J.;
Sokolowska, Olga;
Rydzanicz, Małgorzata;
Szymańska, Krystyna;
Feleszko, Wojciech;
Włodarski, Paweł;
Biernacka, Anna;
Murcia Pienkowski, Victor;
Walczak, Anna;
Bargeł, Elżbieta;
Królewczyk, Katarzyna;
Nowacka, Agata;
Stawiński, Piotr;
Nowis, Dominika;
Dziembowska, Magdalena;
Płoski, Rafał

Publication type:

Article

FLAD1, encoding FAD synthase, is mutated in a patient with myopathy, scoliosis and cataracts.

Published in:

2018

By:

García‐Villoria, Judit;
De Azua, Begoña;
Tort, Frederic;
Mosegaard, Signe;
Ugarteburu, Olatz;
Texidó, Laura;
Morales‐Romero, Blai;
Olsen, Rikke K.J.;
Ribes, Antonia

Publication type:

Letter to the Editor

Variability in Phelan‐McDermid syndrome: The impact of the PNPLA3 p.I148M polymorphism.

Published in:

Clinical Genetics, 2018, v. 94, n. 6, p. 590, doi. 10.1111/cge.13451

By:

Boccuto, Luigi;
Abenavoli, Ludovico;
Cascio, Lauren;
Srikanth, Sujata;
DuPont, Barbara;
Mitz, Andrew R.;
Rogers, Roger Curtis;
Phelan, Katy

Publication type:

Article

Genomic duplication in the 19q13.42 imprinted region identified as a new genetic cause of intrauterine growth restriction.

Published in:

Clinical Genetics, 2018, v. 94, n. 6, p. 575, doi. 10.1111/cge.13449

By:

Petre, Graciane;
Lorès, Patrick;
Sartelet, Hervé;
Truffot, Aurélie;
Poreau, Brice;
Brandeis, Sandrine;
Martinez, Guillaume;
Satre, Véronique;
Harbuz, Radu;
Ray, Pierre F.;
Amblard, Florence;
Devillard, Françoise;
Vieville, Gaëlle;
Berger, Francois;
Jouk, Pierre‐Simon;
Vaiman, Daniel;
Touré, Aminata;
Coutton, Charles;
Bidart, Marie

Publication type:

Article

A multicenter study to evaluate pulmonary function in osteogenesis imperfecta.

Published in:

Clinical Genetics, 2018, v. 94, n. 6, p. 502, doi. 10.1111/cge.13440

By:

Tam, Allison;
Chen, Shan;
Schauer, Evan;
Grafe, Ingo;
Bandi, Venkata;
Shapiro, Jay R.;
Steiner, Robert D.;
Smith, Peter A.;
Bober, Michael B.;
Hart, Tracy;
Cuthbertson, David;
Krischer, Jeffrey;
Mullins, Mary;
Byers, Peter H.;
Sandhaus, Robert A.;
Durigova, Michaela;
Glorieux, Francis H.;
Rauch, Frank;
Reid Sutton, Vernon;
Lee, Brendan

Publication type:

Article

Mutations in known disease genes account for the majority of autosomal recessive retinal dystrophies.

Published in:

Clinical Genetics, 2018, v. 94, n. 6, p. 554, doi. 10.1111/cge.13426

By:

Patel, N.;
Alkuraya, H.;
Alzahrani, S.S.;
Nowailaty, S.R.;
Seidahmed, M.Z.;
Alhemidan, A.;
Ben‐Omran, T.;
Ghazi, N.G.;
Al‐Aqeel, A.;
Al‐Owain, M.;
Alzaidan, H.I.;
Faqeih, E.;
Kurdi, W.;
Rahbeeni, Z.;
Ibrahim, N.;
Abdulwahab, F.;
Hashem, M.;
Shaheen, R.;
Abouelhoda, M.;
Monies, D.

Publication type:

Article

Genomic screening in rare disorders: New mutations and phenotypes, highlighting ALG14 as a novel cause of severe intellectual disability.

Published in:

Clinical Genetics, 2018, v. 94, n. 6, p. 528, doi. 10.1111/cge.13448

By:

Kvarnung, Malin;
Taylan, Fulya;
Nilsson, Daniel;
Anderlid, Britt‐Marie;
Malmgren, Helena;
Lagerstedt‐Robinson, Kristina;
Holmberg, Eva;
Burstedt, Magnus;
Nordenskjöld, Magnus;
Nordgren, Ann;
Lundberg, Elisabeth S.

Publication type:

Article

Genetic screening for macular dystrophies in patients clinically diagnosed with dry age‐related macular degeneration.

Published in:

Clinical Genetics, 2018, v. 94, n. 6, p. 569, doi. 10.1111/cge.13447

By:

Kersten, Eveline;
Geerlings, Maartje J.;
Pauper, Marc;
Corominas, Jordi;
Bakker, Bjorn;
Altay, Lebriz;
Fauser, Sascha;
de Jong, Eiko K.;
Hoyng, Carel B.;
den Hollander, Anneke I.

Publication type:

Article

Phenotype‐genotype relations in facioscapulohumeral muscular dystrophy type 1.

Published in:

Clinical Genetics, 2018, v. 94, n. 6, p. 521, doi. 10.1111/cge.13446

By:

Mul, Karlien;
Voermans, Nicol C.;
Lemmers, Richard J.L.F.;
Jonker, Marianne A.;
van der Vliet, Patrick J.;
Padberg, George W.;
van Engelen, Baziel G.M.;
van der Maarel, Silvère M.;
Horlings, Corinne G.C.

Publication type:

Article

Reanalysis of exome sequencing data of intellectual disability samples: Yields and benefits.

Published in:

Clinical Genetics, 2018, v. 94, n. 6, p. 495, doi. 10.1111/cge.13438

By:

Al‐Nabhani, Maryam;
Al‐Rashdi, Samiya;
Al‐Murshedi, Fathiya;
Al‐Kindi, Adila;
Al‐Thihli, Khalid;
Al‐Saegh, Abeer;
Al‐Futaisi, Amna;
Al‐Mamari, Watfa;
Zadjali, Fahad;
Al‐Maawali, Almundher

Publication type:

Article

A novel CYCS mutation in the α‐helix of the CYCS C‐terminal domain causes non‐syndromic thrombocytopenia.

Published in:

Clinical Genetics, 2018, v. 94, n. 6, p. 548, doi. 10.1111/cge.13423

By:

Uchiyama, Yuri;
Yanagisawa, Kunio;
Kunishima, Shinji;
Shiina, Masaaki;
Ogawa, Yoshiyuki;
Nakashima, Mitsuko;
Hirato, Junko;
Imagawa, Eri;
Fujita, Atsushi;
Hamanaka, Kohei;
Miyatake, Satoko;
Mitsuhashi, Satomi;
Takata, Atsushi;
Miyake, Noriko;
Ogata, Kazuhiro;
Handa, Hiroshi;
Matsumoto, Naomichi;
Mizuguchi, Takeshi

Publication type:

Article

Biparental/androgenetic mosaicism in a male with features of overgrowth and placental mesenchymal dysplasia.

Published in:

Clinical Genetics, 2018, v. 94, n. 6, p. 564, doi. 10.1111/cge.13431

By:

Repnikova, E.;
Roberts, J.;
Kats, A.;
Habeebu, S.;
Schwager, C.;
Joyce, J.;
Manalang, M.;
Amudhavalli, S.M.

Publication type:

Article

Issue Information ‐ Editorial Board.

Published in:: Clinical Genetics, 2018, v. 94, n. 6, p. 493, doi. 10.1111/cge.13119
Publication type:: Article