Works matching IS 00099163 AND DT 2016 AND VI 90 AND IP 6

Results: 15

Issue Information - Editorial Board.
Published in:
Clinical Genetics, 2016, v. 90, n. 6, p. 475, doi. 10.1111/cge.12670
Publication type:
Article
Structure-function studies of HNF1A ( MODY3) gene mutations in South Indian patients with monogenic diabetes.
Published in:
Clinical Genetics, 2016, v. 90, n. 6, p. 486, doi. 10.1111/cge.12757
By:
- Balamurugan, K.;
- Bjørkhaug, L.;
- Mahajan, S.;
- Kanthimathi, S.;
- Njølstad, P.R.;
- Srinivasan, N.;
- Mohan, V.;
- Radha, V.
Publication type:
Article
Autosomal recessive IFT57 hypomorphic mutation cause ciliary transport defect in unclassified oral-facial-digital syndrome with short stature and brachymesophalangia.
Published in:
Clinical Genetics, 2016, v. 90, n. 6, p. 509, doi. 10.1111/cge.12785
By:
- Thevenon, J.;
- Duplomb, L.;
- Phadke, S.;
- Eguether, T.;
- Saunier, A.;
- Avila, M.;
- Carmignac, V.;
- Bruel, A.‐L.;
- St‐Onge, J.;
- Duffourd, Y.;
- Pazour, G.J.;
- Franco, B.;
- Attie‐Bitach, T.;
- Masurel‐Paulet, A.;
- Rivière, J.‐B.;
- Cormier‐Daire, V.;
- Philippe, C.;
- Faivre, L.;
- Thauvin‐Robinet, C.
Publication type:
Article
A homozygous nonsense variant in IFT52 is associated with a human skeletal ciliopathy.
Published in:
Clinical Genetics, 2016, v. 90, n. 6, p. 536, doi. 10.1111/cge.12762
By:
- Girisha, K. M.;
- Shukla, A.;
- Trujillano, D.;
- Bhavani, G. S.;
- Hebbar, M.;
- Kadavigere, R.;
- Rolfs, A.
Publication type:
Article
Expanding the phenotype of CRB2 mutations - A new ciliopathy syndrome?
Published in:
Clinical Genetics, 2016, v. 90, n. 6, p. 540, doi. 10.1111/cge.12764
By:
- Jaron, R.;
- Rosenfeld, N.;
- Zahdeh, F.;
- Carmi, S.;
- Beni‐Adani, L.;
- Doviner, V.;
- Picard, E.;
- Segel, R.;
- Zeligson, S.;
- Carmel, L.;
- Renbaum, P.;
- Levy‐Lahad, E.
Publication type:
Article
RELN and VLDLR mutations underlie two distinguishable clinico-radiological phenotypes.
Published in:
Clinical Genetics, 2016, v. 90, n. 6, p. 545, doi. 10.1111/cge.12779
By:
- Valence, S.;
- Garel, C.;
- Barth, M.;
- Toutain, A.;
- Paris, C.;
- Amsallem, D.;
- Barthez, M.‐A.;
- Mayer, M.;
- Rodriguez, D.;
- Burglen, L.
Publication type:
Article
Refining the phenotypical and mutational spectrum of Taybi-Linder syndrome.
Published in:
Clinical Genetics, 2016, v. 90, n. 6, p. 550, doi. 10.1111/cge.12781
By:
- Putoux, A.;
- Alqahtani, A.;
- Pinson, L.;
- Paulussen, A.D.C.;
- Michel, J.;
- Besson, A.;
- Mazoyer, S.;
- Borg, I.;
- Nampoothiri, S.;
- Vasiljevic, A.;
- Uwineza, A.;
- Boggio, D.;
- Champion, F.;
- de Die‐Smulders, C.E.;
- Gardeitchik, T.;
- van Putten, W.K.;
- Perez, M.J.;
- Musizzano, Y.;
- Razavi, F.;
- Drunat, S.
Publication type:
Article
A common variant association study reveals novel susceptibility loci for low HDL-cholesterol levels in ethnic Arabs.
Published in:
Clinical Genetics, 2016, v. 90, n. 6, p. 518, doi. 10.1111/cge.12761
By:
- Wakil, S. M.;
- Ram, R.;
- Muiya, N. P.;
- Andres, E.;
- Mazhar, N.;
- Hagos, S.;
- Alshahid, M.;
- Meyer, B. F.;
- Morahan, G.;
- Dzimiri, N.
Publication type:
Article
Identification and characterization of 20 novel pathogenic variants in 60 unrelated Indian patients with mucopolysaccharidoses type I and type II.
Published in:
Clinical Genetics, 2016, v. 90, n. 6, p. 496, doi. 10.1111/cge.12795
By:
- Uttarilli, A.;
- Ranganath, P.;
- Matta, D.;
- Md Nurul Jain, J.;
- Prasad, K.;
- Babu, A.S.;
- Girisha, K.M.;
- Verma, I.C.;
- Phadke, S.R.;
- Mandal, K.;
- Puri, R.D.;
- Aggarwal, S.;
- Danda, S.;
- Sankar, V.H.;
- Kapoor, S.;
- Bhat, M.;
- Gowrishankar, K.;
- Hasan, A.Q.;
- Nair, M.;
- Nampoothiri, S.
Publication type:
Article
Expanding non-invasive prenatal testing beyond chromosomes 21, 18, 13, X and Y.
Published in:
Clinical Genetics, 2016, v. 90, n. 6, p. 477, doi. 10.1111/cge.12818
By:
- Benn, P.
Publication type:
Article
Molecular genetic analysis of 30 families with Joubert syndrome.
Published in:
Clinical Genetics, 2016, v. 90, n. 6, p. 526, doi. 10.1111/cge.12836
By:
- Suzuki, T.;
- Miyake, N.;
- Tsurusaki, Y.;
- Okamoto, N.;
- Alkindy, A.;
- Inaba, A.;
- Sato, M.;
- Ito, S.;
- Muramatsu, K.;
- Kimura, S.;
- Ieda, D.;
- Saitoh, S.;
- Hiyane, M.;
- Suzumura, H.;
- Yagyu, K.;
- Shiraishi, H.;
- Nakajima, M.;
- Fueki, N.;
- Habata, Y.;
- Ueda, Y.
Publication type:
Article
Severe infantile male encephalopathy is a result of early post-zygotic WDR45 somatic mutation.
Published in:
Clinical Genetics, 2016, v. 90, n. 6, p. 560, doi. 10.1111/cge.12849
By:
- Spiegel, R.;
- Shalev, S.;
- Bercovich, D.;
- Rabinovich, D.;
- Khayat, M.;
- Shaag, A.;
- Elpeleg, O.
Publication type:
Article
A de novo mutation in the NALCN gene in an adult patient with cerebellar ataxia associated with intellectual disability and arthrogryposis.
Published in:
Clinical Genetics, 2016, v. 90, n. 6, p. 556, doi. 10.1111/cge.12851
By:
- Wang, Y.;
- Koh, K.;
- Ichinose, Y.;
- Yasumura, M.;
- Ohtsuka, T.;
- Takiyama, Y.
Publication type:
Article
A large cohort study confirming that specific haplotype 4A161PAS is exclusively associated with the Chinese FSHD1.
Published in:
Clinical Genetics, 2016, v. 90, n. 6, p. 558, doi. 10.1111/cge.12858
By:
- Lin, F.;
- He, J‐J.;
- Lin, X‐D.;
- Wang, D‐N.;
- Lin, H‐X.;
- Liu, X‐Y.;
- Lin, M‐T.;
- Wang, N.;
- Wang, Z‐Q.
Publication type:
Article
Biallelic truncating SCN9A mutation identified in four families with congenital insensitivity to pain from Pakistan.
Published in:
Clinical Genetics, 2016, v. 90, n. 6, p. 563, doi. 10.1111/cge.12860
By:
- Sawal, H.A.;
- Harripaul, R.;
- Mikhailov, A.;
- Dad, R.;
- Ayub, M.;
- Jawad Hassan, M.;
- Vincent, J.B.
Publication type:
Article