Works matching IS 00099163 AND DT 2015 AND VI 88 AND IP 5

Results: 17

Depression among adults with neurofibromatosis type 1: prevalence and impact on quality of life.
Published in:
Clinical Genetics, 2015, v. 88, n. 5, p. 425, doi. 10.1111/cge.12551
By:
- Cohen, J.S.;
- Levy, H.P.;
- Sloan, J.;
- Dariotis, J.;
- Biesecker, B.B.
Publication type:
Article
mtDNA mutations variously impact mtDNA maintenance throughout the human embryofetal development.
Published in:
Clinical Genetics, 2015, v. 88, n. 5, p. 416, doi. 10.1111/cge.12557
By:
- Steffann, J.;
- Monnot, S.;
- Bonnefont, J.‐P.
Publication type:
Article
Extreme variability in clinical penetrance for a splice-site Plakophilin-2 mutation in a Bangladeshi family.
Published in:
Clinical Genetics, 2015, v. 88, n. 5, p. 502, doi. 10.1111/cge.12578
By:
- Sayeed, M.Z.;
- Salam, M.A.;
- Islam, A.K.M. Monwarul;
- Bhuiyan, Z.A.
Publication type:
Article
Collagen type IV-related nephropathies in Portugal: pathogenic COL4A3 and COL4A4 mutations and clinical characterization of 25 families.
Published in:
Clinical Genetics, 2015, v. 88, n. 5, p. 456, doi. 10.1111/cge.12521
By:
- Nabais Sá, M.J.;
- Storey, H.;
- Flinter, F.;
- Nagel, M.;
- Sampaio, S.;
- Castro, R.;
- Araújo, J.A.;
- Gaspar, M.A.;
- Soares, C.;
- Oliveira, A.;
- Henriques, A.C.;
- da Costa, A.G.;
- Abreu, C.P.;
- Ponce, P.;
- Alves, R.;
- Pinho, L.;
- Silva, S.E.;
- de Moura, C.P.;
- Mendonça, L.;
- Carvalho, F.
Publication type:
Article
Collagen type IV-related nephropathies in Portugal: pathogenic COL4A5 mutations and clinical characterization of 22 families.
Published in:
Clinical Genetics, 2015, v. 88, n. 5, p. 462, doi. 10.1111/cge.12522
By:
- Nabais Sá, M.J.;
- Sampaio, S.;
- Oliveira, A.;
- Alves, S.;
- Moura, C.P.;
- Silva, S.E.;
- Castro, R.;
- Araújo, J.A.;
- Rodrigues, M.;
- Neves, F.;
- Seabra, J.;
- Soares, C.;
- Gaspar, M.A.;
- Tavares, I.;
- Freitas, L.;
- Sousa, T.C.;
- Henriques, A.C.;
- Costa, F.T.;
- Morgado, E.;
- Sousa, F.T.
Publication type:
Article
Frequent occurrence of gastric cancer in Asian kindreds with Li-Fraumeni syndrome.
Published in:
Clinical Genetics, 2015, v. 88, n. 5, p. 450, doi. 10.1111/cge.12525
By:
- Ariffin, H.;
- Chan, A.S.L.;
- Oh, L.;
- Abd‐Ghafar, S.;
- Ong, G.B.;
- Mohamed, M.;
- Razali, H.;
- Juraida, E.;
- Teo, S.H.;
- Karsa, M.;
- Shamsani, J.;
- Hainaut, P.
Publication type:
Article
A review of craniofacial disorders caused by spliceosomal defects.
Published in:
Clinical Genetics, 2015, v. 88, n. 5, p. 405, doi. 10.1111/cge.12596
By:
- Lehalle, D.;
- Wieczorek, D.;
- Zechi‐Ceide, R.M.;
- Passos‐Bueno, M.R.;
- Lyonnet, S.;
- Amiel, J.;
- Gordon, C.T.
Publication type:
Article
Toward an in-depth profiling of DTC users.
Published in:
Clinical Genetics, 2015, v. 88, n. 5, p. 505, doi. 10.1111/cge.12599
By:
- Oliveri, S.;
- Renzi, C.;
- Pravettoni, G.
Publication type:
Article
A mutation creating an out-of-frame alternative translation initiation site in the GRHPR 5′ UTR causing primary hyperoxaluria type II.
Published in:
Clinical Genetics, 2015, v. 88, n. 5, p. 494, doi. 10.1111/cge.12541
By:
- Fu, Y.;
- Rope, R.;
- Fargue, S.;
- Cohen, H.T.;
- Holmes, R.P.;
- Cohen, D.M.
Publication type:
Article
Exome sequencing in 32 patients with anophthalmia/microphthalmia and developmental eye defects.
Published in:
Clinical Genetics, 2015, v. 88, n. 5, p. 468, doi. 10.1111/cge.12543
By:
- Slavotinek, A.M.;
- Garcia, S.T.;
- Chandratillake, G.;
- Bardakjian, T.;
- Ullah, E.;
- Wu, D.;
- Umeda, K.;
- Lao, R.;
- Tang, P.L.‐F.;
- Wan, E.;
- Madireddy, L.;
- Lyalina, S.;
- Mendelsohn, B.A.;
- Dugan, S.;
- Tirch, J.;
- Tischler, R.;
- Harris, J.;
- Clark, M.J.;
- Chervitz, S.;
- Patwardhan, A.
Publication type:
Article
Resolving clinical diagnoses for syndromic cleft lip and/or palate phenotypes using whole-exome sequencing.
Published in:
Clinical Genetics, 2015, v. 88, n. 5, p. 441, doi. 10.1111/cge.12547
By:
- Pengelly, R.J.;
- Upstill‐Goddard, R.;
- Arias, L.;
- Martinez, J.;
- Gibson, J.;
- Knut, M.;
- Collins, A.L.;
- Ennis, S.;
- Collins, A.;
- Briceno, I.
Publication type:
Article
The gastrointestinal manifestation of constitutional mismatch repair deficiency syndrome: from a single adenoma to polyposis-like phenotype and early onset cancer.
Published in:
Clinical Genetics, 2015, v. 88, n. 5, p. 474, doi. 10.1111/cge.12518
By:
- Levi, Z.;
- Kariv, R.;
- Barnes‐Kedar, I.;
- Goldberg, Y.;
- Half, E.;
- Morgentern, S.;
- Eli, B.;
- Baris, H.N.;
- Vilkin, A.;
- Belfer, R.G.;
- Niv, Y.;
- Elhasid, R.;
- Dvir, R.;
- Abu‐Freha, N.;
- Cohen, S.
Publication type:
Article
Fabry disease in a geriatric population.
Published in:
Clinical Genetics, 2015, v. 88, n. 5, p. 499, doi. 10.1111/cge.12585
By:
- Barbey, F.;
- Joly, D.;
- Noel, E.;
- Drouineau, O.;
- Krayenbühl, P.‐A.;
- Lidove, O.
Publication type:
Article
Intrafamilial variability of ZRS-associated syndrome: characterization of a mosaic ZRS mutation by pyrosequencing.
Published in:
Clinical Genetics, 2015, v. 88, n. 5, p. 479, doi. 10.1111/cge.12534
By:
- Vanlerberghe, C.;
- Faivre, L.;
- Petit, F.;
- Fruchart, O.;
- Jourdain, A.‐S.;
- Clavier, F.;
- Gay, S.;
- Manouvrier‐Hanu, S.;
- Escande, F.
Publication type:
Article
Identification of eight novel mutations and transcript analysis of two splicing mutations in Chinese newborns with MCC deficiency.
Published in:
Clinical Genetics, 2015, v. 88, n. 5, p. 484, doi. 10.1111/cge.12535
By:
- Yang, L.;
- Yang, J.;
- Zhang, T.;
- Weng, C.;
- Hong, F.;
- Tong, F.;
- Yang, R.;
- Yin, X.;
- Yu, P.;
- Huang, X.;
- Qi, M.
Publication type:
Article
Insights into genotype-phenotype correlations from CREBBP point mutation screening in a cohort of 46 Rubinstein-Taybi syndrome patients.
Published in:
Clinical Genetics, 2015, v. 88, n. 5, p. 431, doi. 10.1111/cge.12537
By:
- Spena, S.;
- Milani, D.;
- Rusconi, D.;
- Negri, G.;
- Colapietro, P.;
- Elcioglu, N.;
- Bedeschi, F.;
- Pilotta, A.;
- Spaccini, L.;
- Ficcadenti, A.;
- Magnani, C.;
- Scarano, G.;
- Selicorni, A.;
- Larizza, L.;
- Gervasini, C.
Publication type:
Article
Setleis syndrome: clinical, molecular and structural studies of the first TWIST2 missense mutation.
Published in:
Clinical Genetics, 2015, v. 88, n. 5, p. 489, doi. 10.1111/cge.12539
By:
- Rosti, R.O.;
- Uyguner, Z.O.;
- Nazarenko, I.;
- Bekerecioglu, M.;
- Cadilla, C.L.;
- Ozgur, H.;
- Lee, B.H.;
- Aggarwal, A.K.;
- Pehlivan, S.;
- Desnick, R.J.
Publication type:
Article