Works matching IS 00099163 AND DT 2017 AND VI 92 AND IP 3

Results: 20

The genotype-phenotype landscape of familial amyotrophic lateral sclerosis in Australia.

Published in:

Clinical Genetics, 2017, v. 92, n. 3, p. 259, doi. 10.1111/cge.12973

By:

McCann, E.P.;
Williams, K.L.;
Fifita, J.A.;
Tarr, I.S.;
O'Connor, J.;
Rowe, D.B.;
Nicholson, G.A.;
Blair, I.P.

Publication type:

Article

A duplication in a patient with 46, XX ovo-testicular disorder of sex development refines the SOX9 testis-specific regulatory region to 24 kb.

Published in:

Clinical Genetics, 2017, v. 92, n. 3, p. 347, doi. 10.1111/cge.12976

By:

Ohnesorg, T.;
Bergen, J.A.;
Belluoccio, D.;
Shankara‐Narayana, N.;
Kean, A.‐M.;
Vasilaras, A.;
Ewans, L.;
Ayers, K.L.;
Sinclair, A.H.

Publication type:

Article

Geographical and ethnic distribution of MTHFR gene polymorphisms and their associations with diseases among Chinese population.

Published in:

Clinical Genetics, 2017, v. 92, n. 3, p. 243, doi. 10.1111/cge.12929

By:

Yang, B.;
Fan, S.;
Zhi, X.;
Xia, R.;
Wang, Y.;
Zheng, Q.;
Sun, G.

Publication type:

Article

Clinical and mutational spectrum of Japanese patients with Charcot-Marie-Tooth disease caused by GDAP1 variants.

Published in:

Clinical Genetics, 2017, v. 92, n. 3, p. 274, doi. 10.1111/cge.13002

By:

Yoshimura, A.;
Yuan, J.‐H.;
Hashiguchi, A.;
Hiramatsu, Y.;
Ando, M.;
Higuchi, Y.;
Nakamura, T.;
Okamoto, Y.;
Matsumura, K.;
Hamano, T.;
Sawaura, N.;
Shimatani, Y.;
Kumada, S.;
Okumura, Y.;
Miyahara, J.;
Yamaguchi, Y.;
Kitamura, S.;
Haginoya, K.;
Mitsui, J.;
Ishiura, H.

Publication type:

Article

Confirming the recessive inheritance of SCN1B mutations in developmental epileptic encephalopathy.

Published in:

Clinical Genetics, 2017, v. 92, n. 3, p. 327, doi. 10.1111/cge.12999

By:

Ramadan, W.;
Patel, N.;
Anazi, S.;
Kentab, A.Y.;
Bashiri, F.A.;
Hamad, M.H.;
Jad, L.;
Salih, M.A.;
Alsaif, H.;
Hashem, M.;
Faqeih, E.;
Shamseddin, H.E.;
Alkuraya, F.S.

Publication type:

Article

Clinical and mutation analysis of 24 Chinese patients with ornithine transcarbamylase deficiency.

Published in:

Clinical Genetics, 2017, v. 92, n. 3, p. 318, doi. 10.1111/cge.13004

By:

Shao, Y.;
Jiang, M.;
Lin, Y.;
Mei, H.;
Zhang, W.;
Cai, Y.;
Su, X.;
Hu, H.;
Li, X.;
Liu, L.

Publication type:

Article

Second family provides further evidence for causation of Steel syndrome by biallelic mutations in COL27A1.

Published in:

Clinical Genetics, 2017, v. 92, n. 3, p. 323, doi. 10.1111/cge.13006

By:

Kotabagi, S.;
Shah, H.;
Shukla, A.;
Girisha, K.M.

Publication type:

Article

Metatarsal bony syndactyly in 2 fetuses with Smith-Lemli-Opitz syndrome: An under-recognized part of the clinical spectrum.

Published in:

Clinical Genetics, 2017, v. 92, n. 3, p. 342, doi. 10.1111/cge.12990

By:

Moosa, Shahida;
Loeys, Bart;
Altmüller, Janine;
Mortier, Geert;
Nürnberg, Peter;
Li, Yun;
Wollnik, Bernd;
Vogel, Ida

Publication type:

Article

Defining personal utility in genomics: A Delphi study.

Published in:

Clinical Genetics, 2017, v. 92, n. 3, p. 290, doi. 10.1111/cge.12998

By:

Kohler, J.N.;
Turbitt, E.;
Lewis, K.L.;
Wilfond, B.S.;
Jamal, L.;
Peay, H.L.;
Biesecker, L.G.;
Biesecker, B.B.

Publication type:

Article

Tyrosinemia type II: Mutation update, 11 novel mutations and description of 5 independent subjects with a novel founder mutation.

Published in:

Clinical Genetics, 2017, v. 92, n. 3, p. 306, doi. 10.1111/cge.13003

By:

Peña‐Quintana, L.;
Scherer, G.;
Curbelo‐Estévez, M.L.;
Jiménez‐Acosta, F.;
Hartmann, B.;
La Roche, F.;
Meavilla‐Olivas, S.;
Pérez‐Cerdá, C.;
García‐Segarra, N.;
Giguère, Y.;
Huppke, P.;
Mitchell, G.A.;
Mönch, E.;
Trump, D.;
Vianey‐Saban, C.;
Trimble, E.R.;
Vitoria‐Miñana, I.;
Reyes‐Suárez, D.;
Ramírez‐Lorenzo, T.;
Tugores, A.

Publication type:

Article

Issue Information - Editorial Board.

Published in:: Clinical Genetics, 2017, v. 92, n. 3, p. 233, doi. 10.1111/cge.12942
Publication type:: Article

Eye coloboma and complex cardiac malformations belong to the clinical spectrum of PUF60 variants.

Published in:

Clinical Genetics, 2017, v. 92, n. 3, p. 350, doi. 10.1111/cge.12965

By:

Santos‐Simarro, F.;
Vallespin, E.;
Pozo, A.;
Ibañez, K.;
Silla, J.C.;
Fernandez, L.;
Nevado, J.;
González‐Pecellín, H.;
Montaño, V.E.F.;
Martin, R.;
Alba Valdivia, L.I.;
García‐Miñaúr, S.;
Lapunzina, P.;
Palomares‐Bralo, M.

Publication type:

Article

A novel missense mutation in NR0B1 causes delayed-onset primary adrenal insufficiency in adults.

Published in:

Clinical Genetics, 2017, v. 92, n. 3, p. 344, doi. 10.1111/cge.12966

By:

Oh, C.‐M.;
Chun, S.;
Lee, J.‐E.;
Lee, J.S.;
Park, S.;
Gee, H.Y.;
Kim, S.W.

Publication type:

Article

Attenuated phenotype of Costello syndrome and early death in a patient with an HRAS mutation (c. 179G>T; p. Gly60Val) affecting signalling dynamics.

Published in:

Clinical Genetics, 2017, v. 92, n. 3, p. 332, doi. 10.1111/cge.12980

By:

Gripp, K.W.;
Kolbe, V.;
Brandenstein, L.I.;
Rosenberger, G.

Publication type:

Article

The Danish HD Registry-a nationwide family registry of HD families in Denmark.

Published in:

Clinical Genetics, 2017, v. 92, n. 3, p. 338, doi. 10.1111/cge.12984

By:

Gilling, M.;
Budtz‐Jørgensen, E.;
Boonen, S.E.;
Lildballe, D.;
Bojesen, A.;
Hertz, J.M.;
Sørensen, S.A.

Publication type:

Article

Debunking Occam's razor: Diagnosing multiple genetic diseases in families by whole-exome sequencing.

Published in:

Clinical Genetics, 2017, v. 92, n. 3, p. 281, doi. 10.1111/cge.12987

By:

Balci, T.B.;
Hartley, T.;
Xi, Y.;
Dyment, D.A.;
Beaulieu, C.L.;
Bernier, F.P.;
Dupuis, L.;
Horvath, G.A.;
Mendoza‐Londono, R.;
Prasad, C.;
Richer, J.;
Yang, X.‐R.;
Armour, C.M.;
Bareke, E.;
Fernandez, B.A.;
McMillan, H.J.;
Lamont, R.E.;
Majewski, J.;
Parboosingh, J.S.;
Prasad, A.N.

Publication type:

Article

Molecular, clinical and neuropsychological study in 31 patients with Kabuki syndrome and KMT2D mutations.

Published in:

Clinical Genetics, 2017, v. 92, n. 3, p. 298, doi. 10.1111/cge.13010

By:

Lehman, N.;
Mazery, A.C.;
Visier, A.;
Baumann, C.;
Lachesnais, D.;
Capri, Y.;
Toutain, A.;
Odent, S.;
Mikaty, M.;
Goizet, C.;
Taupiac, E.;
Jacquemont, M.L.;
Sanchez, E.;
Schaefer, E.;
Gatinois, V.;
Faivre, L.;
Minot, D.;
Kayirangwa, H.;
Sang, K.‐H.L.Q.;
Boddaert, N.

Publication type:

Article

The investigation of genetic and clinical features in Chinese patients with juvenile amyotrophic lateral sclerosis.

Published in:

Clinical Genetics, 2017, v. 92, n. 3, p. 267, doi. 10.1111/cge.13015

By:

Liu, Z.‐J.;
Lin, H.‐X.;
Liu, G.‐L.;
Tao, Q.‐Q.;
Ni, W.;
Xiao, B.‐G.;
Wu, Z.‐Y.

Publication type:

Article

Corrigendum.

Published in:: Clinical Genetics, 2017, v. 92, n. 3, p. 352, doi. 10.1111/cge.13017
Publication type:: Article

Associations of microRNA single nucleotide polymorphisms and disease risk and pathophysiology.

Published in:

Clinical Genetics, 2017, v. 92, n. 3, p. 235, doi. 10.1111/cge.12950

By:

Liu, X.;
Han, Z.;
Yang, C.

Publication type:

Article