Works matching IS 00099163 AND DT 2018 AND VI 93 AND IP 4

Results: 31

Corrigendum.

Published in:: 2018
Publication type:: Correction Notice

Corrigendum.

Published in:: 2018
Publication type:: Correction Notice

A targeted sequencing panel identifies rare damaging variants in multiple genes in the cranial neural tube defect, anencephaly.

Published in:

Clinical Genetics, 2018, v. 93, n. 4, p. 870, doi. 10.1111/cge.13189

By:

Ishida, M.;
Cullup, T.;
Boustred, C.;
James, C.;
Docker, J.;
English, C.;
Gosgene;
Lench, N.;
Copp, A. J.;
Moore, G. E.;
Greene, N. D. E.;
Stanier, P.

Publication type:

Article

Lecocytes mutation load declines with age in carriers of the m.3243A>G mutation: A 10‐year Prospective Cohort.

Published in:

Clinical Genetics, 2018, v. 93, n. 4, p. 925, doi. 10.1111/cge.13201

By:

Langdahl, J. H.;
Larsen, M.;
Frost, M.;
Andersen, P. H.;
Yderstræde, K. B.;
Vissing, J.;
Dunø, M.;
Thomassen, M.;
Frederiksen, A. L.

Publication type:

Article

Okur‐Chung neurodevelopmental syndrome: Eight additional cases with implications on phenotype and genotype expansion.

Published in:

Clinical Genetics, 2018, v. 93, n. 4, p. 880, doi. 10.1111/cge.13196

By:

Chiu, A. T. G.;
Pei, S. L. C.;
Mak, C. C. Y.;
Leung, G. K. C.;
Yu, M. H. C.;
Lee, S. L.;
Vreeburg, M.;
Pfundt, R.;
Van Der Burgt, I.;
Kleefstra, T.;
Frederic, T.M.‐t.;
Nambot, S.;
Faivre, L.;
Bruel, A.‐l.;
Rossi, M.;
Isidor, B.;
Küry, S.;
Cogne, B.;
Besnard, T.;
Willems, M.

Publication type:

Article

Effect of <italic>LSR</italic> polymorphism on blood lipid levels and age‐specific epistatic interaction with the <italic>APOE</italic> common polymorphism.

Published in:

Clinical Genetics, 2018, v. 93, n. 4, p. 846, doi. 10.1111/cge.13181

By:

Xie, T.;
Stathopoulou, M. G.;
Akbar, S.;
Oster, T.;
Siest, G.;
Yen, F. T.;
Visvikis‐siest, S.

Publication type:

Article

Genetic prediction of type 2 diabetes using deep neural network.

Published in:

Clinical Genetics, 2018, v. 93, n. 4, p. 822, doi. 10.1111/cge.13175

By:

Kim, J.;
Kwak, M. J.;
Bajaj, M.

Publication type:

Article

Hypermanganesemia with dystonia, polycythemia and cirrhosis in 10 patients: Six novel <italic>SLC30A10</italic> mutations and further phenotype delineation.

Published in:

Clinical Genetics, 2018, v. 93, n. 4, p. 905, doi. 10.1111/cge.13184

By:

Zaki, M. S.;
Issa, M. Y.;
Elbendary, H. M.;
El‐karaksy, H.;
Hosny, H.;
Ghobrial, C.;
El Safty, A.;
El‐hennawy, A.;
Oraby, A.;
Selim, L.;
Abdel‐hamid, M. S.

Publication type:

Article

How practical experiences, educational routes and multidisciplinary teams influence genetic counselors' clinical practice in Europe.

Published in:

Clinical Genetics, 2018, v. 93, n. 4, p. 891, doi. 10.1111/cge.13197

By:

Pestoff, R.;
Moldovan, R.;
Cordier, C.;
Serra‐juhé, C.;
Paneque, M.;
Ingvoldstad, C. M.

Publication type:

Article

Novel inactivating mutations of the DCAF17 gene in American and Turkish families cause male infertility and female subfertility in the mouse model.

Published in:

Clinical Genetics, 2018, v. 93, n. 4, p. 853, doi. 10.1111/cge.13183

By:

Gurbuz, F.;
Desai, S.;
Diao, F.;
Turkkahraman, D.;
Wranitz, F.;
Wood‐trageser, M.;
Shin, Y.‐h.;
Kotan, L. D.;
Jiang, H.;
Witchel, S.;
Gurtunca, N.;
Yatsenko, S.;
Mysliwec, D.;
Topaloglu, K.;
Rajkovic, A.

Publication type:

Article

Phenotype expansion and development in Kosaki overgrowth syndrome.

Published in:

Clinical Genetics, 2018, v. 93, n. 4, p. 919, doi. 10.1111/cge.13192

By:

Gawliński, P.;
Pelc, M.;
Ciara, E.;
Jhangiani, S.;
Jurkiewicz, E.;
Gambin, T.;
Różdżyńska‐świątkowska, A.;
Dawidziuk, M.;
Coban‐akdemir, Z. H.;
Guilbride, D. L.;
Muzny, D.;
Lupski, J. R.;
Krajewska‐walasek, M.

Publication type:

Article

Malectin gene polymorphisms promote cerebral palsy via M2‐like macrophage polarization.

Published in:

Clinical Genetics, 2018, v. 93, n. 4, p. 794, doi. 10.1111/cge.13149

By:

Shi, W.;
Zhu, Y.;
Zhou, M.;
Ruan, Y.;
Chen, X.

Publication type:

Article

Targeted gene sequencing and whole‐exome sequencing in autopsied fetuses with prenatally diagnosed kidney anomalies.

Published in:

Clinical Genetics, 2018, v. 93, n. 4, p. 860, doi. 10.1111/cge.13185

By:

Rasmussen, M.;
Sunde, L.;
Nielsen, M. L.;
Ramsing, M.;
Petersen, A.;
Hjortshøj, T. D.;
Olsen, T. E.;
Tabor, A.;
Hertz, J. M.;
Johnsen, I.;
Sperling, L.;
Petersen, O. B.;
Jensen, U. B.;
Møller, F. G.;
Petersen, M. B.;
Lildballe, D. L.

Publication type:

Article

Issue Information ‐ Editorial Board.

Published in:: 2018
Publication type:: Table of Contents

Targeted next‐generation sequencing and parental genotyping in sporadic Chinese Han deaf patients.

Published in:

Clinical Genetics, 2018, v. 93, n. 4, p. 899, doi. 10.1111/cge.13182

By:

He, L.;
Pang, X.;
Liu, H.;
Chai, Y.;
Wu, H.;
Yang, T.

Publication type:

Article

Homozygous <italic>XYLT2</italic> variants as a cause of spondyloocular syndrome.

Published in:

Clinical Genetics, 2018, v. 93, n. 4, p. 913, doi. 10.1111/cge.13179

By:

Umair, M.;
Eckstein, G.;
Rudolph, G.;
Strom, T.;
Graf, E.;
Hendig, D.;
Hoover, J.;
Alanay, J.;
Meitinger, T.;
Schmidt, H.;
Ahmad, W.

Publication type:

Article

<italic>FOXE3</italic> mutations: genotype‐phenotype correlations.

Published in:

Clinical Genetics, 2018, v. 93, n. 4, p. 837, doi. 10.1111/cge.13177

By:

Plaisancié, J.;
Ragge, N. K.;
Dollfus, H.;
Kaplan, J.;
Lehalle, D.;
Francannet, C.;
Morin, G.;
Colineaux, H.;
Calvas, P.;
Chassaing, N.

Publication type:

Article

Patient outcomes of genetic counseling: Assessing the impact of different approaches to family history collection.

Published in:

Clinical Genetics, 2018, v. 93, n. 4, p. 830, doi. 10.1111/cge.13176

By:

Slomp, C.;
Morris, E.;
Inglis, A.;
Lehman, A.;
Austin, J.

Publication type:

Article

Variants in <italic>CIB2</italic> cause DFNB48 and not USH1J.

Published in:

Clinical Genetics, 2018, v. 93, n. 4, p. 812, doi. 10.1111/cge.13170

By:

Booth, K. T.;
Kahrizi, K.;
Babanejad, M.;
Daghagh, H.;
Bademci, G.;
Arzhangi, S.;
Zareabdollahi, D.;
Duman, D.;
El‐amraoui, A.;
Tekin, M.;
Najmabadi, H.;
Azaiez, H.;
Smith, R. J.

Publication type:

Article

A novel germline mutation in CDK4 codon 24 associated to familial melanoma.

Published in:

2018

By:

Bottillo, I.;
La Starza, R.;
Radio, F. C.;
Molica, C.;
Pedace, L.;
Pierini, T.;
De Bernardo, C.;
Stingeni, L.;
Bargiacchi, S.;
Paiardini, A.;
Janson, G.;
Mecucci, C.;
Grammatico, P.

Publication type:

Letter to the Editor

Richieri‐Costa‐Pereira syndrome: Expanding its phenotypic and genotypic spectrum.

Published in:

Clinical Genetics, 2018, v. 93, n. 4, p. 800, doi. 10.1111/cge.13169

By:

Bertola, D. R.;
Hsia, G.;
Alvizi, L.;
Gardham, A.;
Wakeling, E. L.;
Yamamoto, G. L.;
Honjo, R. S.;
Oliveira, L. A. N.;
Di Francesco, R. C.;
Perez, B. A.;
Kim, C. A.;
Passos‐bueno, M. R.

Publication type:

Article

Common variants in <italic>DLG1</italic> locus are associated with non‐syndromic cleft lip with or without cleft palate.

Published in:

Clinical Genetics, 2018, v. 93, n. 4, p. 784, doi. 10.1111/cge.13141

By:

Mostowska, A.;
Gaczkowska, A.;
Żukowski, K.;
Ludwig, K. U.;
Hozyasz, K. K.;
Wójcicki, P.;
Mangold, E.;
Böhmer, A. C.;
Heilmann‐heimbach, S.;
Knapp, M.;
Zadurska, M.;
Biedziak, B.;
Budner, M.;
Lasota, A.;
Daktera‐micker, A.;
Jagodziński, P. P.

Publication type:

Article

<italic>TSGA10</italic> is a novel candidate gene associated with acephalic spermatozoa.

Published in:

2018

By:

Sha, Y.‐w.;
Sha, Y.‐k.;
Ji, Z.‐y.;
Mei, L.‐b.;
Ding, L.;
Zhang, Q.;
Qiu, P.‐p.;
Lin, S.‐b.;
Wang, X.;
Li, P.;
Xu, X.;
Li, L.

Publication type:

Case Study

<italic>mTOR</italic> mutations in Smith‐Kingsmore syndrome: Four additional patients and a review.

Published in:

Clinical Genetics, 2018, v. 93, n. 4, p. 762, doi. 10.1111/cge.13135

By:

Gordo, G.;
Tenorio, J.;
Arias, P.;
Santos‐simarro, F.;
García‐miñaur, S.;
Moreno, J. C.;
Nevado, J.;
Vallespin, E.;
Rodriguez‐laguna, L.;
De Mena, R.;
Dapia, I.;
Palomares‐bralo, M.;
Del Pozo, Á.;
Ibañez, K.;
Silla, J. C.;
Barroso, E.;
Ruiz‐pérez, V. L.;
Martinez‐glez, V.;
Lapunzina, P.

Publication type:

Article

Expansion and further delineation of the <italic>SETD5</italic> phenotype leading to global developmental delay, variable dysmorphic features, and reduced penetrance.

Published in:

Clinical Genetics, 2018, v. 93, n. 4, p. 752, doi. 10.1111/cge.13132

By:

Powis, Z.;
Farwell Hagman, K. D.;
Mroske, C.;
Mcwalter, K.;
Cohen, J. S.;
Colombo, R.;
Serretti, A.;
Fatemi, A.;
David, K. L.;
Reynolds, J.;
Immken, L.;
Nagakura, H.;
Cunniff, C. M.;
Payne, K.;
Barbaro‐dieber, T.;
Gripp, K. W.;
Baker, L.;
Stamper, T.;
Aleck, K. A.;
Jordan, E. S.

Publication type:

Article

The alternatively spliced exon of COL5A1 is mutated in autosomal recessive classical Ehlers‐Danlos syndrome.

Published in:

2018

By:

Alzahrani, F.;
Alkeraye, S.;
Alkuraya, F. S.

Publication type:

Case Study

Two patients with PNKP mutations presenting with microcephaly, seizure, and oculomotor apraxia.

Published in:

2018

By:

Taniguchi‐ikeda, M.;
Morisada, N.;
Inagaki, H.;
Ouchi, Y.;
Takami, Y.;
Tachikawa, M.;
Satake, W.;
Kobayashi, K.;
Tsuneishi, S.;
Takada, S.;
Yamaguchi, H.;
Nagase, H.;
Nozu, K.;
Okamoto, N.;
Nishio, H.;
Toda, T.;
Morioka, I.;
Wada, H.;
Kurahashi, H.;
Iijima, K.

Publication type:

Letter to the Editor

Clinical, biochemical, and genetic aspects of Sjögren‐Larsson syndrome.

Published in:

Clinical Genetics, 2018, v. 93, n. 4, p. 721, doi. 10.1111/cge.13058

By:

Cho, K. H.;
Shim, S. H.;
Kim, M.

Publication type:

Article

A novel missense mutation affecting the same amino acid as the recurrent PACS1 mutation in Schuurs‐Hoeijmakers syndrome.

Published in:

2018

By:

Miyake, N.;
Ozasa, S.;
Mabe, H.;
Kimura, S.;
Shiina, M.;
Imagawa, E.;
Miyatake, S.;
Nakashima, M.;
Mizuguchi, T.;
Takata, A.;
Ogata, K.;
Matsumoto, N.

Publication type:

Letter to the Editor

On the complexity of clinical and molecular bases of neurodegeneration with brain iron accumulation.

Published in:

Clinical Genetics, 2018, v. 93, n. 4, p. 731, doi. 10.1111/cge.13057

By:

Tello, C.;
Darling, A.;
Lupo, V.;
Pérez‐dueñas, B.;
Espinós, C.

Publication type:

Article

Deleterious protein‐altering mutations in the SCN10A voltage‐gated sodium channel gene are associated with prolonged QT.

Published in:

Clinical Genetics, 2018, v. 93, n. 4, p. 741, doi. 10.1111/cge.13036

By:

Abou Ziki, M. D.;
Seidelmann, S. B.;
Smith, E.;
Atteya, G.;
Jiang, Y.;
Fernandes, R. G.;
Marieb, M. A.;
Akar, J. G.;
Mani, A.

Publication type:

Article