Works matching IS 00099163 AND DT 2018 AND VI 94 AND IP 5

Results: 18

Novel SBF2 mutations and clinical spectrum of Charcot‐Marie‐Tooth neuropathy type 4B2.

Published in:

Clinical Genetics, 2018, v. 94, n. 5, p. 467, doi. 10.1111/cge.13417

By:

Laššuthová, P.;
Vill, K.;
Erdem‐Ozdamar, S.;
Schröder, J.M.;
Topaloglu, H.;
Horvath, R.;
Müller‐Felber, W.;
Bansagi, B.;
Schlotter‐Weigel, B.;
Gläser, D.;
Neupauerová, J.;
Sedláčková, L.;
Staněk, D.;
Mazanec, R.;
Weis, J.;
Seeman, P.;
Senderek, J.

Publication type:

Article

Whole exome sequencing identified a second pathogenic variant in HOMER2 for autosomal dominant non‐syndromic deafness.

Published in:

Clinical Genetics, 2018, v. 94, n. 5, p. 419, doi. 10.1111/cge.13422

By:

Lu, X.;
Wang, Q.;
Gu, H.;
Zhang, X.;
Qi, Y.;
Liu, Y.

Publication type:

Article

Apolipoprotein A5 gene variants are associated with decreased adiponectin levels and increased arterial stiffness in subjects with low high‐density lipoprotein‐cholesterol levels.

Published in:

Clinical Genetics, 2018, v. 94, n. 5, p. 438, doi. 10.1111/cge.13439

By:

Kim, Minkyung;
Kim, Minjoo;
Yoo, Hye Jin;
Bang, Yung Ju;
Lee, Sang‐Hyun;
Lee, Jong Ho

Publication type:

Article

Novel compound heterozygous ABCC2 variants in patients with Dubin‐Johnson syndrome and intrahepatic cholestasis of pregnancy.

Published in:

2018

By:

Huynh, M.‐T.;
Chrétien, Y.;
Grison, S.;
Delaunay, J.‐L.;
Lascols, O.;
Tran, C.T.;
Goria, O.;
Ramond, M.‐J.;
Barbu, V.

Publication type:

Case Study

Androgen receptor mRNA analysis from whole blood: a low‐cost strategy for detection of androgen receptor gene splicing defects.

Published in:

Clinical Genetics, 2018, v. 94, n. 5, p. 489, doi. 10.1111/cge.13437

By:

Silva, Juliana M.;
Batista, Rafael Loch;
De Santi Rodrigues, Andresa;
Nishi, Mirian Y.;
Costa, Elaine M.F.;
Domenice, Sorahia;
Carvalho, Luciani R.S.;
Mendonca, Berenice B.

Publication type:

Article

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

Published in:

2018

By:

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

Publication type:

Correction Notice

New SMARCE1 variant in a patient with features overlapping with oculoauriculofrontonasal syndrome.

Published in:

2018

By:

Yano, Shoji;
Fujimoto, Atsuko;
Morin‐Leisk, Jeanne;
Matumoto, Naomichi;
Miyake, Noriko;
Gillespie, Meghan;
Gao, Harry

Publication type:

Case Study

Clinical, radiographic, and genetic characteristics of hypohidrotic ectodermal dysplasia: A cross‐sectional study.

Published in:

Clinical Genetics, 2018, v. 94, n. 5, p. 484, doi. 10.1111/cge.13435

By:

Ngoc, Vo Truong N.;
Duong, Nguyen Thuy;
Chu, Dinh‐Toi;
Hang, Luong M.;
Viet, Do H.;
Duc, Nguyen M.;
Anh, Le Q.;
Son, Tong M.;
Van Can, Do;
Nga, Vu T.

Publication type:

Article

Mechanistic insights into the cellular effects of a novel FN1 variant associated with a spondylometaphyseal dysplasia.

Published in:

Clinical Genetics, 2018, v. 94, n. 5, p. 429, doi. 10.1111/cge.13424

By:

Cadoff, E.B.;
Sheffer, R.;
Wientroub, S.;
Ovadia, D.;
Meiner, V.;
Schwarzbauer, J.E.

Publication type:

Article

Clinical aspects of hereditary spastic paraplegia 76 and novel CAPN1 mutations.

Published in:

2018

By:

Melo, U.S.;
Freua, F.;
Lynch, D.S.;
Ripa, B.D.;
Tenorio, R.B.;
Saute, J.A.M.;
de Souza Leite, F.;
Kitajima, J.;
Houlden, H.;
Zatz, M.;
Kok, F.

Publication type:

Case Study

Novel SBF1 splice‐site null mutation broadens the clinical spectrum of Charcot‐Marie‐Tooth type 4B3 disease.

Published in:

2018

By:

Flusser, H.;
Halperin, D.;
Kadir, R.;
Shorer, Z.;
Shelef, I.;
Birk, O.S.

Publication type:

Case Study

Distal renal tubular acidosis caused by tryptophan‐aspartate repeat domain 72 (WDR72) mutations.

Published in:

Clinical Genetics, 2018, v. 94, n. 5, p. 409, doi. 10.1111/cge.13418

By:

Rungroj, N.;
Nettuwakul, C.;
Sawasdee, N.;
Sangnual, S.;
Deejai, N.;
Misgar, R.A.;
Pasena, A.;
Khositseth, S.;
Kirdpon, S.;
Sritippayawan, S.;
Vasuvattakul, S.;
Yenchitsomanus, PT.

Publication type:

Article

Family dynamics in transthyretin‐related familial amyloid polyneuropathy Val30Met: Does genetic risk affect family functioning?.

Published in:

Clinical Genetics, 2018, v. 94, n. 5, p. 401, doi. 10.1111/cge.13416

By:

Lopes, Alice;
Rodrigues, Carla;
Fonseca, Isabel;
Sousa, Alexandra;
Branco, Margarida;
Coelho, Teresa;
Sequeiros, Jorge;
Freitas, Paula

Publication type:

Article

Novel SUZ12 mutations in Weaver‐like syndrome.

Published in:

Clinical Genetics, 2018, v. 94, n. 5, p. 461, doi. 10.1111/cge.13415

By:

Imagawa, Eri;
Albuquerque, Edoarda V.A.;
Isidor, Bertrand;
Mitsuhashi, Satomi;
Mizuguchi, Takeshi;
Miyatake, Satoko;
Takata, Atsushi;
Miyake, Noriko;
Boguszewski, Margaret C.S.;
Boguszewski, César L.;
Lerario, Antonio M.;
Funari, Mariana A.;
Jorge, Alexander A.L.;
Matsumoto, Naomichi

Publication type:

Article

Report of second case and clinical and molecular characterization of Eiken syndrome.

Published in:

2018

By:

Moirangthem, A.;
Narayanan, D.L.;
Jacob, P.;
Nishimura, G.;
Mortier, G.;
Girisha, K.M.

Publication type:

Case Study

The power of the Mediator complex—Expanding the genetic architecture and phenotypic spectrum of MED12‐related disorders.

Published in:

Clinical Genetics, 2018, v. 94, n. 5, p. 450, doi. 10.1111/cge.13412

By:

Charzewska, A.;
Maiwald, R.;
Kahrizi, K.;
Oehl‐Jaschkowitz, B.;
Dufke, A.;
Lemke, J.R.;
Enders, H.;
Najmabadi, H.;
Tzschach, A.;
Hachmann, W.;
Jensen, C.;
Bienek, M.;
Poznański, J.;
Nawara, M.;
Chilarska, T.;
Obersztyn, E.;
Hoffman‐Zacharska, D.;
Gos, M.;
Bal, J.;
Kalscheuer, V.M.

Publication type:

Article

Aldehyde dehydrogenase 2 polymorphism affects the outcome of methanol poisoning in exposed humans.

Published in:

Clinical Genetics, 2018, v. 94, n. 5, p. 445, doi. 10.1111/cge.13411

By:

Hubacek, J.A.;
Jirsa, M.;
Bobak, M.;
Pelclova, D.;
Zakharov, S.

Publication type:

Article

Issue Information ‐ Editorial Board.

Published in:: Clinical Genetics, 2018, v. 94, n. 5, p. 399, doi. 10.1111/cge.13118
Publication type:: Article