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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
Issue Information ‐ Editorial Board.
Published in:
2018
Publication type:
Table of Contents
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
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
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
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