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

Results: 18

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