Works matching IS 00099163 AND DT 2018 AND VI 94 AND IP 3/4

Results: 21

Corrigendum.

Published in:

2018

By:

Sharma, A.;
Stei, M. M.;
Fröhlich, H.;
Holz, F. G.;
Loeffler, K. U.;
Herwig‐Carl, M. C.

Publication type:

Correction Notice

Phenotypic variability in xeroderma pigmentosum group G: An uncommon case with severe prenatal‐onset Cockayne syndrome features.

Published in:

Clinical Genetics, 2018, v. 94, n. 3/4, p. 386, doi. 10.1111/cge.13364

By:

Ricotti, R.;
Nardo, T.;
Striano, P.;
Stefanini, M.;
Orioli, D.;
Botta, E.

Publication type:

Article

IL11RA‐related Crouzon‐like autosomal recessive craniosynostosis in 10 new patients: Resemblances and differences.

Published in:

Clinical Genetics, 2018, v. 94, n. 3/4, p. 373, doi. 10.1111/cge.13409

By:

Brischoux‐Boucher, E.;
Trimouille, A.;
Baujat, G.;
Goldenberg, A.;
Schaefer, E.;
Guichard, B.;
Hannequin, P.;
Paternoster, G.;
Baer, S.;
Cabrol, C.;
Weber, E.;
Godfrin, G.;
Lenoir, M.;
Lacombe, D.;
Collet, C.;
Van Maldergem, L.

Publication type:

Article

IFT80 mutations cause a novel complex ciliopathy phenotype with retinal degeneration.

Published in:

Clinical Genetics, 2018, v. 94, n. 3/4, p. 368, doi. 10.1111/cge.13408

By:

Moran, J.;
G. Sanderson, K.;
Maynes, J.;
Vig, A.;
Batmanabane, V.;
Kannu, P.;
Tavares, E.;
Vincent, A.;
Héon, E.

Publication type:

Article

Evidence for HNRNPH1 being another gene for Bain type syndromic mental retardation.

Published in:

Clinical Genetics, 2018, v. 94, n. 3/4, p. 381, doi. 10.1111/cge.13410

By:

Pilch, Jacek;
Koppolu, Agnieszka A.;
Walczak, Anna;
Murcia Pienkowski, Victor A.;
Biernacka, Anna;
Skiba, Paweł;
Machnik‐Broncel, Joanna;
Gasperowicz, Piotr;
Kosińska, Joanna;
Rydzanicz, Małgorzata;
Emich‐Widera, Ewa;
Płoski, Rafał

Publication type:

Article

Issue Information ‐ Editorial Board.

Published in:: Clinical Genetics, 2018, v. 94, n. 3/4, p. 281, doi. 10.1111/cge.13433
Publication type:: Article

How do consent forms for diagnostic high‐throughput sequencing address unsolicited and secondary findings? A content analysis.

Published in:

Clinical Genetics, 2018, v. 94, n. 3/4, p. 321, doi. 10.1111/cge.13391

By:

Vears, D. F.;
Niemiec, E.;
Howard, H. C.;
Borry, P.

Publication type:

Article

A novel homozygous frame‐shift variant in the LHCGR gene is associated with primary ovarian insufficiency in a Pakistani family.

Published in:

Clinical Genetics, 2018, v. 94, n. 3/4, p. 396, doi. 10.1111/cge.13406

By:

Zielen, A. C.;
Khan, M. J.;
Pollock, N.;
Jiang, H.;
Ahmed, J.;
Nazli, R.;
Jabeen, M.;
Yatsenko, A.;
Rajkovic, A.

Publication type:

Article

Genotype‐phenotype correlations of low‐frequency variants in the complement system in renal disease and age‐related macular degeneration.

Published in:

Clinical Genetics, 2018, v. 94, n. 3/4, p. 330, doi. 10.1111/cge.13392

By:

Geerlings, M. J.;
Volokhina, E. B.;
de Jong, E. K.;
van de Kar, N.;
Pauper, M.;
Hoyng, C. B.;
van den Heuvel, L. P.;
den Hollander, A. I.

Publication type:

Article

Mutational analysis of CCM1, CCM2 and CCM3 in a Han Chinese cohort with multiple cerebral cavernous malformations in Taiwan.

Published in:

Clinical Genetics, 2018, v. 94, n. 3/4, p. 389, doi. 10.1111/cge.13377

By:

Jih, K.‐Y.;
Chung, C.‐P.;
Chang, Y.‐Y.;
Hung, P.‐L.;
Soong, B.‐W.;
Liao, Y.‐C.;
Lan, M.‐Y.;
Lee, Y.‐C.

Publication type:

Article

The GBA p.Trp378Gly mutation is a probable French‐Canadian founder mutation causing Gaucher disease and synucleinopathies.

Published in:

Clinical Genetics, 2018, v. 94, n. 3/4, p. 339, doi. 10.1111/cge.13405

By:

Ruskey, J. A.;
Zhou, S.;
Santiago, R.;
Franche, L.‐A.;
Alam, A.;
Roncière, L.;
Spiegelman, D.;
Fon, E. A.;
Trempe, J.‐F.;
Kalia, L. V.;
Postuma, R. B.;
Dupre, N.;
Rivard, G.‐E.;
Assouline, S.;
Amato, D.;
Gan‐Or, Z.

Publication type:

Article

Genome‐wide compound heterozygosity analysis highlighted 4 novel susceptibility loci for congenital heart disease in Chinese population.

Published in:

Clinical Genetics, 2018, v. 94, n. 3/4, p. 296, doi. 10.1111/cge.13384

By:

Jiang, T.;
Huang, M.;
Gu, Y.;
Wang, Y.;
Wu, Y.;
Ma, H.;
Jin, G.;
Dai, J.;
Hu, Z.

Publication type:

Article

GPT2 mutations cause developmental encephalopathy with microcephaly and features of complicated hereditary spastic paraplegia.

Published in:

Clinical Genetics, 2018, v. 94, n. 3/4, p. 356, doi. 10.1111/cge.13390

By:

Hengel, H.;
Keimer, R.;
Deigendesch, W.;
Rieß, A.;
Marzouqa, H.;
Zaidan, J.;
Bauer, P.;
Schöls, L.

Publication type:

Article

Enrichment of rare copy number variation in children with developmental language disorder.

Published in:

Clinical Genetics, 2018, v. 94, n. 3/4, p. 313, doi. 10.1111/cge.13389

By:

Kalnak, N.;
Stamouli, S.;
Peyrard‐Janvid, M.;
Rabkina, I.;
Becker, M.;
Klingberg, T.;
Kere, J.;
Forssberg, H.;
Tammimies, K.

Publication type:

Article

A ZPR1 mutation is associated with a novel syndrome of growth restriction, distinct craniofacial features, alopecia, and hypoplastic kidneys.

Published in:

Clinical Genetics, 2018, v. 94, n. 3/4, p. 303, doi. 10.1111/cge.13388

By:

Ito, Y. A.;
Smith, A. C.;
Kernohan, K. D.;
Pena, I. A.;
Ahmed, A.;
McDonell, L. M.;
Beaulieu, C.;
Bulman, D. E.;
Smidt, A.;
Sawyer, S. L.;
Care4Rare Canada Consortium;
Dyment, D. A.;
Boycott, K. M.;
Clericuzio, C. L.

Publication type:

Article

Unraveling molecular pathways shared by Kabuki and Kabuki‐like syndromes.

Published in:

Clinical Genetics, 2018, v. 94, n. 3/4, p. 283, doi. 10.1111/cge.12983

By:

Lintas, C.;
Persico, A. M.

Publication type:

Article

PPP1R21 homozygous null variants associated with developmental delay, muscle weakness, distinctive facial features, and brain abnormalities.

Published in:

Clinical Genetics, 2018, v. 94, n. 3/4, p. 351, doi. 10.1111/cge.13387

By:

Suleiman, J.;
Al Hashem, A. M.;
Tabarki, B.;
Al‐Thihli, K.;
Bi, W.;
El‐Hattab, A. W.

Publication type:

Article

A founder nonsense variant in NUDT2 causes a recessive neurodevelopmental disorder in Saudi Arab children.

Published in:

Clinical Genetics, 2018, v. 94, n. 3/4, p. 393, doi. 10.1111/cge.13386

By:

Yavuz, H.;
Bertoli‐Avella, A. M.;
Alfadhel, M.;
Al‐Sannaa, N.;
Kandaswamy, K. K.;
Al‐Tuwaijri, W.;
Rolfs, A.;
Brandau, O.;
Bauer, P.

Publication type:

Article

PRUNE1‐related disorder: Expanding the clinical spectrum.

Published in:

Clinical Genetics, 2018, v. 94, n. 3/4, p. 362, doi. 10.1111/cge.13385

By:

Imagawa, E.;
Yamamoto, Y.;
Mitsuhashi, S.;
Isidor, B.;
Fukuyama, T.;
Kato, M.;
Sasaki, M.;
Tanabe, S.;
Miyatake, S.;
Mizuguchi, T.;
Takata, A.;
Miyake, N.;
Matsumoto, N.

Publication type:

Article

Factors associated with ATXN2 CAG/CAA repeat intergenerational instability in Spinocerebellar ataxia type 2.

Published in:

Clinical Genetics, 2018, v. 94, n. 3/4, p. 346, doi. 10.1111/cge.13380

By:

Almaguer‐Mederos, L. E.;
Mesa, J. M. L.;
González‐Zaldívar, Y.;
Almaguer‐Gotay, D.;
Cuello‐Almarales, D.;
Aguilera‐Rodríguez, R.;
Falcón, N. S.;
Gispert, S.;
Auburger, G.;
Velázquez‐Pérez, L.

Publication type:

Article

Bilateral cerebellar cysts and cerebral white matter lesions with cortical dysgenesis: Expanding the phenotype of LAMB1 gene mutations.

Published in:

2018

By:

Okazaki, T.;
Saito, Y.;
Hayashida, T.;
Akaboshi, S.;
Miyake, N.;
Matsumoto, N.;
Kasagi, N.;
Adachi, K.;
Shinohara, Y.;
Nanba, E.;
Maegaki, Y.

Publication type:

Case Study