Works matching IS 00099163 AND DT 2017 AND VI 92 AND IP 6

Results: 19

New EPCAM founder deletion in Polish population.

Published in:

Clinical Genetics, 2017, v. 92, n. 6, p. 649, doi. 10.1111/cge.13026

By:

Dymerska, D.;
Gołębiewska, K.;
Kuświk, M.;
Rudnicka, H.;
Scott, R.J.;
Billings, R.;
Pławski, A.;
Boruń, P.;
Siołek, M.;
Kozak-Klonowska, B.;
Szwiec, M.;
Kilar, E.;
Huzarski, T.;
Byrski, T.;
Lubiński, J.;
Kurzawski, G.

Publication type:

Article

A de novo missense mutation in SLC12A5 found in a compound heterozygote patient with epilepsy of infancy with migrating focal seizures.

Published in:

Clinical Genetics, 2017, v. 92, n. 6, p. 654, doi. 10.1111/cge.13049

By:

Saito, T.;
Ishii, A.;
Sugai, K.;
Sasaki, M.;
Hirose, S.

Publication type:

Article

Reassessing the clinical spectrum associated with hereditary leiomyomatosis and renal cell carcinoma syndrome in French FH mutation carriers.

Published in:

Clinical Genetics, 2017, v. 92, n. 6, p. 606, doi. 10.1111/cge.13014

By:

Muller, M.;
Ferlicot, S.;
Guillaud-Bataille, M.;
Le Teuff, G.;
Genestie, C.;
Deveaux, S.;
Slama, A.;
Poulalhon, N.;
Escudier, B.;
Albiges, L.;
Soufir, N.;
Avril, M.-F.;
Gardie, B.;
Saldana, C.;
Allory, Y.;
Gimenez-Roqueplo, A.-P.;
Bressac-de Paillerets, B.;
Richard, S.;
Benusiglio, P.R.

Publication type:

Article

Truncating mutations on myofibrillar myopathies causing genes as prevalent molecular explanations on patients with dilated cardiomyopathy.

Published in:

Clinical Genetics, 2017, v. 92, n. 6, p. 616, doi. 10.1111/cge.13043

By:

Janin, A.;
N'Guyen, K.;
Habib, G.;
Dauphin, C.;
Chanavat, V.;
Bouvagnet, P.;
Eschalier, R.;
Streichenberger, N.;
Chevalier, P.;
Millat, G.

Publication type:

Article

Parents' attitudes toward genetic testing of children for health conditions: A systematic review.

Published in:

Clinical Genetics, 2017, v. 92, n. 6, p. 569, doi. 10.1111/cge.12989

By:

Lim, Q.;
McGill, B.C.;
Quinn, V.F.;
Tucker, K.M.;
Mizrahi, D.;
Patenaude, A.F.;
Warby, M.;
Cohn, R.J.;
Wakefield, C.E.

Publication type:

Article

Autism spectrum disorder recurrence, resulting of germline mosaicism for a CHD2 gene missense variant.

Published in:

Clinical Genetics, 2017, v. 92, n. 6, p. 669, doi. 10.1111/cge.13073

By:

Lebrun, N.;
Parent, P.;
Gendras, J.;
Billuart, P.;
Poirier, K.;
Bienvenu, T.

Publication type:

Article

Spectrum of mutations in cystinuria patients presenting with prenatal hyperechoic colon.

Published in:

Clinical Genetics, 2017, v. 92, n. 6, p. 632, doi. 10.1111/cge.13079

By:

Tostivint, I.;
Royer, N.;
Nicolas, M.;
Bourillon, A.;
Czerkiewicz, I.;
Becker, P.-H.;
Muller, F.;
Benoist, J.-F.

Publication type:

Article

Prenatal course of metaphyseal anadysplasia associated with homozygous mutation in MMP9 identified by exome sequencing.

Published in:

Clinical Genetics, 2017, v. 92, n. 6, p. 645, doi. 10.1111/cge.13020

By:

Sharony, R.;
Borochowitz, Z.;
Cohen, L.;
Shtorch-Asor, A.;
Rosenfeld, R.;
Modai, S.;
Reinstein, E.

Publication type:

Article

Molecular analysis of patients with aniridia in Russian Federation broadens the spectrum of PAX6 mutations.

Published in:

Clinical Genetics, 2017, v. 92, n. 6, p. 639, doi. 10.1111/cge.13019

By:

Vasilyeva, T.A.;
Voskresenskaya, A.A.;
Käsmann-Kellner, B.;
Khlebnikova, O.V.;
Pozdeyeva, N.A.;
Bayazutdinova, G.M.;
Kutsev, S.I.;
Ginter, E.K.;
Semina, E.V.;
Marakhonov, A.V.;
Zinchenko, R.A.

Publication type:

Article

New evidence for association of recessive IARS gene mutations with hepatopathy, hypotonia, intellectual disability and growth retardation.

Published in:

Clinical Genetics, 2017, v. 92, n. 6, p. 671, doi. 10.1111/cge.13080

By:

Smigiel, R.;
Biela, M.;
Biernacka, A.;
Stembalska, A.;
Sasiadek, M.;
Kosinska, J.;
Rydzanicz, M.;
Ploski, R.

Publication type:

Article

Osteopathia striata with cranial sclerosis and Wilms tumor: Coincidence or consequence?

Published in:

Clinical Genetics, 2017, v. 92, n. 6, p. 674, doi. 10.1111/cge.13082

By:

Sperotto, F.;
Bisogno, G.;
Opocher, E.;
Rossi, S.;
Rigon, C.;
Trevisson, E.;
Mercolini, F.

Publication type:

Article

A novel PAX1 null homozygous mutation in autosomal recessive otofaciocervical syndrome associated with severe combined immunodeficiency.

Published in:

Clinical Genetics, 2017, v. 92, n. 6, p. 664, doi. 10.1111/cge.13085

By:

Paganini, I.;
Sestini, R.;
Capone, G.L.;
Putignano, A.L.;
Contini, E.;
Giotti, I.;
Gensini, F.;
Marozza, A.;
Barilaro, A.;
Porfirio, B.;
Papi, L.

Publication type:

Article

Patient understanding of genetic information influences reproductive decision making in retinoblastoma.

Published in:

Clinical Genetics, 2017, v. 92, n. 6, p. 587, doi. 10.1111/cge.13035

By:

Foster, A.;
Boyes, L.;
Burgess, L.;
Carless, S.;
Bowyer, V.;
Jenkinson, H.;
Parulekar, M.;
Ainsworth, J.;
Hungerford, J.;
Onadim, Z.;
Sagoo, M.;
Rosser, E.;
Reddy, M.A.;
Cole, T.

Publication type:

Article

WNK1/ HSN2 founder mutation in patients with hereditary sensory and autonomic neuropathy: A Japanese cohort study.

Published in:

Clinical Genetics, 2017, v. 92, n. 6, p. 659, doi. 10.1111/cge.13037

By:

Yuan, J.-H.;
Hashiguchi, A.;
Yoshimura, A.;
Sakai, N.;
Takahashi, M.P.;
Ueda, T.;
Taniguchi, A.;
Okamoto, S.;
Kanazawa, N.;
Yamamoto, Y.;
Saigoh, K.;
Kusunoki, S.;
Ando, M.;
Hiramatsu, Y.;
Okamoto, Y.;
Takashima, H.

Publication type:

Article

High diagnostic yield of clinically unidentifiable syndromic growth disorders by targeted exome sequencing.

Published in:

Clinical Genetics, 2017, v. 92, n. 6, p. 594, doi. 10.1111/cge.13038

By:

Kim, Yoo-Mi;
Lee, Yun-Jin;
Park, Jae Hong;
Lee, Hyoung-Doo;
Cheon, Chong Kun;
Kim, Su-Young;
Hwang, Jae-Yeon;
Jang, Ja-Hyun;
Yoo, Han-Wook

Publication type:

Article

Small patella syndrome: New clinical and molecular insights into a consistent phenotype.

Published in:

Clinical Genetics, 2017, v. 92, n. 6, p. 676, doi. 10.1111/cge.13103

By:

Vanlerberghe, C.;
Jourdain, A.-S.;
Dieux, A.;
Toutain, A.;
Callewaert, B.;
Dupuis-Girod, S.;
Unger, S.;
Wright, M.;
Isidor, B.;
Ghoumid, J.;
Petit, F.;
Boutry, N.;
Escande, F.;
Manouvrier-Hanu, S.

Publication type:

Article

A homozygous potentially pathogenic variant in the PAXBP1 gene in a large family with global developmental delay and myopathic hypotonia.

Published in:

Clinical Genetics, 2017, v. 92, n. 6, p. 579, doi. 10.1111/cge.13051

By:

Alharby, E.;
Albalawi, A.M.;
Nasir, A.;
Alhijji, S.A.;
Mahmood, A.;
Ramzan, K.;
Abdusamad, F.;
Aljohani, A.;
Abdelsalam, O.;
Eldardear, A.;
Basit, S.

Publication type:

Article

Spectrum of mucocutaneous, ocular and facial features and delineation of novel presentations in 62 classical Ehlers-Danlos syndrome patients.

Published in:

Clinical Genetics, 2017, v. 92, n. 6, p. 624, doi. 10.1111/cge.13052

By:

Colombi, M.;
Dordoni, C.;
Venturini, M.;
Ciaccio, C.;
Morlino, S.;
Chiarelli, N.;
Zanca, A.;
Calzavara-Pinton, P.;
Zoppi, N.;
Castori, M.;
Ritelli, M.

Publication type:

Article

Issue Information - Editorial Board.

Published in:: Clinical Genetics, 2017, v. 92, n. 6, p. 567, doi. 10.1111/cge.12945
Publication type:: Article