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Baraitser-Winter cerebrofrontofacial syndrome.
Published in:
Clinical Genetics, 2017, v. 92, n. 1, p. 3, doi. 10.1111/cge.12864
By:
- Yates, T.M.;
- Turner, C.L.;
- Firth, H.V.;
- Berg, J.;
- Pilz, D.T.
Publication type:
Article
Spectrum of ATP7B mutations and genotype-phenotype correlation in large-scale Chinese patients with Wilson Disease.
Published in:
Clinical Genetics, 2017, v. 92, n. 1, p. 69, doi. 10.1111/cge.12951
By:
- Cheng, N.;
- Wang, H.;
- Wu, W.;
- Yang, R.;
- Liu, L.;
- Han, Y.;
- Guo, L.;
- Hu, J.;
- Xu, L.;
- Zhao, J.;
- Liu, Q.;
- Li, K.;
- Wang, X.;
- Chen, W.
Publication type:
Article
Mutations in CRLF1 cause familial achalasia.
Published in:
Clinical Genetics, 2017, v. 92, n. 1, p. 104, doi. 10.1111/cge.12953
By:
- Busch, A.;
- Žarković, M.;
- Lowe, C.;
- Jankofsky, M.;
- Ganschow, R.;
- Buers, I.;
- Kurth, I.;
- Reutter, H.;
- Rutsch, F.;
- Hübner, C.A.
Publication type:
Article
Genetic heterogeneity in Pakistani microcephaly families revisited.
Published in:
Clinical Genetics, 2017, v. 92, n. 1, p. 62, doi. 10.1111/cge.12955
By:
- Ahmad, I.;
- Baig, S. M.;
- Abdulkareem, A. R.;
- Hussain, M. S.;
- Sur, I.;
- Toliat, M. R.;
- Nürnberg, G.;
- Dalibor, N.;
- Moawia, A.;
- Waseem, S. S.;
- Asif, M.;
- Nagra, H.;
- Sher, M.;
- Khan, M. M. A.;
- Hassan, I.;
- Rehman, S. ur;
- Thiele, H.;
- Altmüller, J.;
- Noegel, A. A.;
- Nürnberg, P.
Publication type:
Article
SF1 and spleen development: new heterozygous mutation, literature review and consequences for NR5A1-mutated patient's management.
Published in:
Clinical Genetics, 2017, v. 92, n. 1, p. 99, doi. 10.1111/cge.12957
By:
- Colson, C.;
- Aubry, E.;
- Cartigny, M.;
- Rémy, A.‐A.;
- Franquet, H.;
- Leroy, X.;
- Kéchid, G.;
- Lefèvre, C.;
- Besson, R.;
- Cools, M.;
- Spinoit, A.F.;
- Sultan, C.;
- Manouvrier, S.;
- Philibert, P.;
- Ghoumid, J.
Publication type:
Article
Maternal uniparental disomy of chromosome 16 [upd(16)mat]: clinical features are rather caused by (hidden) trisomy 16 mosaicism than by upd(16)mat itself.
Published in:
Clinical Genetics, 2017, v. 92, n. 1, p. 45, doi. 10.1111/cge.12958
By:
- Scheuvens, R.;
- Begemann, M.;
- Soellner, L.;
- Meschede, D.;
- Raabe‐Meyer, G.;
- Elbracht, M.;
- Schubert, R.;
- Eggermann, T.
Publication type:
Article
Genetic profiling of children with advanced cholestatic liver disease.
Published in:
Clinical Genetics, 2017, v. 92, n. 1, p. 52, doi. 10.1111/cge.12959
By:
- Shagrani, M.;
- Burkholder, J.;
- Broering, D.;
- Abouelhoda, M.;
- Faquih, T.;
- El‐Kalioby, M.;
- Subhani, S.N.;
- Goljan, E.;
- Albar, R.;
- Monies, D.;
- Mazhar, N.;
- AlAbdulaziz, B.S.;
- Abdelrahman, K.A.;
- Altassan, N.;
- Alkuraya, F.S.
Publication type:
Article
p.Phe508del, p.Gly542X, p.Arg1162X, p.Asn1303Lys, and p.Lys683serfsX38 mutations in CF newborn screening of Brazilian children.
Published in:
Clinical Genetics, 2017, v. 92, n. 1, p. 115, doi. 10.1111/cge.12903
By:
- Ribas, D.I.R.;
- Escaliante, C.H.;
- Bortoli, C.G.;
- de Oliveira, C.R.F.;
- Mikami, L.R.;
- Riedi, C.A.;
- Raskin, S.;
- Rosário Filho, N.A.;
- Pereira‐Ferrari, L.
Publication type:
Article
A novel homozygous truncating mutation of the SFRP4 gene in Pyle's disease.
Published in:
Clinical Genetics, 2017, v. 92, n. 1, p. 112, doi. 10.1111/cge.12907
By:
- Chatron, N.;
- Lesca, G.;
- Labalme, A.;
- Rollat‐Farnier, P.A.;
- Monin, P.;
- Pichot, E.;
- Edery, P.;
- Sanlaville, D.;
- Rossi, M.
Publication type:
Article
ARL2BP mutations account for 0.1% of autosomal recessive rod-cone dystrophies with the report of a novel splice variant.
Published in:
Clinical Genetics, 2017, v. 92, n. 1, p. 109, doi. 10.1111/cge.12909
By:
- Audo, I.;
- El Shamieh, S.;
- Méjécase, C.;
- Michiels, C.;
- Demontant, V.;
- Antonio, A.;
- Condroyer, C.;
- Boyard, F.;
- Letexier, M.;
- Saraiva, J.‐P.;
- Blanchard, S.;
- Mohand‐Saïd, S.;
- Sahel, J.‐A.;
- Zeitz, C.
Publication type:
Article
Twin-sisters with PLA2G6-associated neurodegeneration due to paternal isodisomy of the chromosome 22 following in vitro fertilization.
Published in:
Clinical Genetics, 2017, v. 92, n. 1, p. 117, doi. 10.1111/cge.12925
By:
- Tello, C.;
- Darling, A.;
- Lupo, V.;
- Ortez, C.I.;
- Pérez‐Dueñas, B.;
- Espinós, C.
Publication type:
Article
The use of whole exome sequencing for the diagnosis of autosomal recessive malignant infantile osteopetrosis.
Published in:
Clinical Genetics, 2017, v. 92, n. 1, p. 80, doi. 10.1111/cge.12804
By:
- Shamriz, O.;
- Shaag, A.;
- Yaacov, B.;
- NaserEddin, A.;
- Weintraub, M.;
- Elpeleg, O.;
- Stepensky, P.
Publication type:
Article
Issue Information - Editorial Board.
Published in:
Clinical Genetics, 2017, v. 92, n. 1, p. 1, doi. 10.1111/cge.12940
Publication type:
Article
CHARGE syndrome gastrointestinal involvement: from mouth to anus.
Published in:
Clinical Genetics, 2017, v. 92, n. 1, p. 10, doi. 10.1111/cge.12892
By:
- Hudson, A.;
- Macdonald, M.;
- Friedman, J.N.;
- Blake, K.
Publication type:
Article
The combination of vestibular impairment and congenital sensorineural hearing loss predisposes patients to ocular anomalies, including Usher syndrome.
Published in:
Clinical Genetics, 2017, v. 92, n. 1, p. 26, doi. 10.1111/cge.12895
By:
- Kletke, S.;
- Batmanabane, V.;
- Dai, T.;
- Vincent, A.;
- Li, S.;
- Gordon, K.A.;
- Papsin, B.C.;
- Cushing, S.L.;
- Héon, E.
Publication type:
Article
Broadening the phenotypic spectrum of POP1-skeletal dysplasias: identification of POP1 mutations in a mild and severe skeletal dysplasia.
Published in:
Clinical Genetics, 2017, v. 92, n. 1, p. 91, doi. 10.1111/cge.12964
By:
- Barraza‐García, J.;
- Rivera‐Pedroza, C.I.;
- Hisado‐Oliva, A.;
- Belinchón‐Martínez, A.;
- Sentchordi‐Montané, L.;
- Duncan, E.L.;
- Clark, G.R.;
- del Pozo, A.;
- Ibáñez‐Garikano, K.;
- Offiah, A.;
- Prieto‐Matos, P.;
- Cormier‐Daire, V.;
- Heath, K.E.
Publication type:
Article
A recognizable type of syndromic short stature with arthrogryposis caused by bi-allelic SEMA3A loss-of-function variants.
Published in:
Clinical Genetics, 2017, v. 92, n. 1, p. 86, doi. 10.1111/cge.12967
By:
- Baumann, M.;
- Steichen‐Gersdorf, E.;
- Krabichler, B.;
- Müller, T.;
- Janecke, A.R.
Publication type:
Article
DJ-1 modulates mitochondrial response to oxidative stress: clues from a novel diagnosis of PARK7.
Published in:
Clinical Genetics, 2017, v. 92, n. 1, p. 18, doi. 10.1111/cge.12841
By:
- Di Nottia, M.;
- Masciullo, M.;
- Verrigni, D.;
- Petrillo, S.;
- Modoni, A.;
- Rizzo, V.;
- Di Giuda, D.;
- Rizza, T.;
- Niceta, M.;
- Torraco, A.;
- Bianchi, M.;
- Santoro, M.;
- Bentivoglio, A.R.;
- Bertini, E.;
- Piemonte, F.;
- Carrozzo, R.;
- Silvestri, G.
Publication type:
Article
Alport syndrome: impact of digenic inheritance in patients management.
Published in:
Clinical Genetics, 2017, v. 92, n. 1, p. 34, doi. 10.1111/cge.12919
By:
- Fallerini, C.;
- Baldassarri, M.;
- Trevisson, E.;
- Morbidoni, V.;
- La Manna, A.;
- Lazzarin, R.;
- Pasini, A.;
- Barbano, G.;
- Pinciaroli, A.R.;
- Garosi, G.;
- Frullanti, E.;
- Pinto, A.M.;
- Mencarelli, M.A.;
- Mari, F.;
- Renieri, A.;
- Ariani, F.
Publication type:
Article

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