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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
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
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
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
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
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
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

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