Works matching IS 00099163 AND DT 2018 AND VI 94 AND IP 2

Results: 16

Risk communication in genetic counseling: Exploring uptake and perception of recurrence numbers, and their impact on patient outcomes.

Published in:

Clinical Genetics, 2018, v. 94, n. 2, p. 239, doi. 10.1111/cge.13379

By:

Borle, K.;
Morris, E.;
Inglis, A.;
Austin, J.

Publication type:

Article

Polymorphisms of genes involved in inflammation and blood vessel development influence the risk of varicose veins.

Published in:

Clinical Genetics, 2018, v. 94, n. 2, p. 191, doi. 10.1111/cge.13362

By:

Shadrina, A.;
Tsepilov, Y.;
Smetanina, M.;
Voronina, E.;
Seliverstov, E.;
Ilyukhin, E.;
Kirienko, A.;
Zolotukhin, I.;
Filipenko, M.

Publication type:

Article

NR4A2 haploinsufficiency is associated with intellectual disability and autism spectrum disorder.

Published in:

Clinical Genetics, 2018, v. 94, n. 2, p. 264, doi. 10.1111/cge.13383

By:

Lévy, J.;
Grotto, S.;
Mignot, C.;
Maruani, A.;
Delahaye‐Duriez, A.;
Benzacken, B.;
Keren, B.;
Haye, D.;
Xavier, J.;
Heulin, M.;
Charles, E.;
Verloes, A.;
Dupont, C.;
Pipiras, E.;
Tabet, A.‐C.

Publication type:

Article

A known pathogenic variant in the essential mitochondrial translation gene RMND1 causes a Perrault‐like syndrome with renal defects.

Published in:

2018

By:

Demain, L. A. M.;
Antunes, D.;
O'Sullivan, J.;
Bhaskhar, S. S.;
O'Keefe, R. T.;
Newman, W. G.

Publication type:

Case Study

New case of bilateral pheochromocytomas involving the homozygous TMEM127 mutation.

Published in:

2018

By:

Laboureau, S.;
Guichet, A.;
Duriez, T.;
Veyrat‐Durebex, C.;
Bouzamondo, N.;
Briet, C.;
Mirebeau‐Prunier, D.

Publication type:

Case Study

Discovery of 4 exonic and 1 intergenic novel susceptibility loci for leprosy.

Published in:

Clinical Genetics, 2018, v. 94, n. 2, p. 259, doi. 10.1111/cge.13376

By:

Wang, Z.;
Mi, Z.;
Wang, H.;
Sun, L.;
Yu, G.;
Fu, X.;
Wang, C.;
Bao, F.;
Yue, Z.;
Zhao, Q.;
Wang, N.;
Cheng, X.;
Liu, H.;
Zhang, F.

Publication type:

Article

Refining the phenotype associated with biallelic DNAJC21 mutations.

Published in:

Clinical Genetics, 2018, v. 94, n. 2, p. 252, doi. 10.1111/cge.13370

By:

D'Amours, G.;
Lopes, F.;
Gauthier, J.;
Saillour, V.;
Nassif, C.;
Wynn, R.;
Alos, N.;
Leblanc, T.;
Capri, Y.;
Nizard, S.;
Lemyre, E.;
Michaud, J. L.;
Pelletier, V.‐A.;
Pastore, Y. D.;
Soucy, J.‐F.

Publication type:

Article

Genetic analysis of adult leukoencephalopathy patients using a custom‐designed gene panel.

Published in:

Clinical Genetics, 2018, v. 94, n. 2, p. 232, doi. 10.1111/cge.13371

By:

Kunii, M.;
Doi, H.;
Ishii, Y.;
Ohba, C.;
Tanaka, K.;
Tada, M.;
Fukai, R.;
Hashiguchi, S.;
Kishida, H.;
Ueda, N.;
Kudo, Y.;
Kugimoto, C.;
Nakano, T.;
Udaka, N.;
Miyatake, S.;
Miyake, N.;
Saitsu, H.;
Ito, Y.;
Takahashi, K.;
Nakamura, H.

Publication type:

Article

Confirmation of SLC5A7‐related distal hereditary motor neuropathy 7 in a family outside Wales.

Published in:

2018

By:

Hamanaka, K.;
Takahashi, K.;
Miyatake, S.;
Mitsuhashi, S.;
Hamanoue, H.;
Miyaji, Y.;
Fukai, R.;
Doi, H.;
Fujita, A.;
Imagawa, E.;
Iwama, K.;
Nakashima, M.;
Mizuguchi, T.;
Takata, A.;
Miyake, N.;
Takeuchi, H.;
Tanaka, F.;
Matsumoto, N.

Publication type:

Case Study

Further audiovestibular characterization of DFNB77, caused by deleterious variants in LOXHD1, and investigation into the involvement of Fuchs corneal dystrophy.

Published in:

Clinical Genetics, 2018, v. 94, n. 2, p. 221, doi. 10.1111/cge.13368

By:

Wesdorp, M.;
Schreur, V.;
Beynon, A. J.;
Oostrik, J.;
van de Kamp, J. M.;
Elting, M. W.;
van den Boogaard, M.‐J.H.;
Feenstra, I.;
Admiraal, R. J. C.;
Kunst, H. P. M.;
Hoyng, C. B.;
Kremer, H.;
Yntema, H. G.;
Pennings, R. J. E.;
Schraders, M.

Publication type:

Article

Clinical and molecular insights into Glanzmann's thrombasthenia in China.

Published in:

Clinical Genetics, 2018, v. 94, n. 2, p. 213, doi. 10.1111/cge.13366

By:

Zhou, L.;
Jiang, M.;
Shen, H.;
You, T.;
Ding, Z.;
Cui, Q.;
Ma, Z.;
Yang, F.;
Xie, Z.;
Shi, H.;
Su, J.;
Cao, L.;
Lin, J.;
Yin, J.;
Dai, L.;
Wang, H.;
Wang, Z.;
Yu, Z.;
Ruan, C.;
Xia, L.

Publication type:

Article

Genetic variant spectrum in 265 Chinese patients with hemophagocytic lymphohistiocytosis: Molecular analyses of PRF1, UNC13D, STX11, STXBP2, SH2D1A, and XIAP.

Published in:

Clinical Genetics, 2018, v. 94, n. 2, p. 200, doi. 10.1111/cge.13363

By:

Chen, X.;
Wang, F.;
Zhang, Y.;
Teng, W.;
Wang, M.;
Nie, D.;
Zhou, X.;
Wang, D.;
Zhao, H.;
Zhu, P.;
Liu, H.

Publication type:

Article

A founder mutation MLC1 c.736delA associated with megalencephalic leukoencephalopathy with subcortical cysts‐1 in north Indian kindred.

Published in:

Clinical Genetics, 2018, v. 94, n. 2, p. 271, doi. 10.1111/cge.13251

By:

Vellarikkal, S. K.;
Jayarajan, R.;
Verma, A.;
Ravi, R.;
Senthilvel, V.;
Kumar, A.;
Saini, L.;
Gulati, S.;
Lal, M.;
Mathur, A.;
Chhetri, M. K.;
Faruq, M.;
Scaria, V.;
Sivasubbu, S.

Publication type:

Article

Identification of 4 novel mutations of androgen receptor gene in 8 Chinese families with complete androgen insensitivity syndrome.

Published in:

Clinical Genetics, 2018, v. 94, n. 2, p. 269, doi. 10.1111/cge.13248

By:

Wu, Q.;
Wang, C.;
Shi, H.;
Mei, S.;
Liu, L.;
Xin, Y.;
Kong, X.

Publication type:

Article

Issue Information ‐ Editorial Board.

Published in:: Clinical Genetics, 2018, v. 94, n. 2, p. 189, doi. 10.1111/cge.13115
Publication type:: Article

Expanding the clinical spectrum of biallelic ZNF335 variants.

Published in:

Clinical Genetics, 2018, v. 94, n. 2, p. 246, doi. 10.1111/cge.13260

By:

Stouffs, K.;
Stergachis, A. B.;
Vanderhasselt, T.;
Dica, A.;
Janssens, S.;
Vandervore, L.;
Gheldof, A.;
Bodamer, O.;
Keymolen, K.;
Seneca, S.;
Liebaers, I.;
Jayaraman, D.;
Hill, H. E.;
Partlow, J. N.;
Walsh, C. A.;
Jansen, A. C.

Publication type:

Article