Works matching IS 00099163 AND DT 2009 AND VI 76

Results: 102

Combined immunodeficiency, facial dysmorphism, optic nerve atrophy, skeletal anomalies and developmental delay: a new syndrome.

Published in:

Clinical Genetics, 2009, v. 76, n. 5, p. 449, doi. 10.1111/j.1399-0004.2009.01239.x

By:

Roifman, C. M.;
Chitayat, D.

Publication type:

Article

STIL on my small brain: a new gene for microcephaly.

Published in:

Clinical Genetics, 2009, v. 76, n. 6, p. 501, doi. 10.1111/j.1399-0004.2009.01297.x

By:

Kumar, R. A.

Publication type:

Article

Molecular analysis of CYP21A2 can optimize the follow-up of positive results in newborn screening for congenital adrenal hyperplasia.

Published in:

Clinical Genetics, 2009, v. 76, n. 6, p. 503, doi. 10.1111/j.1399-0004.2009.01274.x

By:

Silveira, E. L.;
Elnecave, R. H.;
dos Santos, E. P.;
Moura, V.;
Pinto, E. M.;
van der Linden Nader, I.;
Mendonca, B. B.;
Bachega, T. A. S. S.

Publication type:

Article

Novel B3GALTL mutation in Peters-plus Syndrome.

Published in:

Clinical Genetics, 2009, v. 76, n. 5, p. 490, doi. 10.1111/j.1399-0004.2009.01253.x

By:

Dassie-Ajdid, J.;
Causse, A.;
Poidvin, A.;
Granier, M.;
Kaplan, J.;
Burglen, L.;
Doummar, D.;
Teisseire, P.;
Vigouroux, A.;
Malecaze, F.;
Calvas, P.;
Chassaing, N.

Publication type:

Article

Five novel germline function-impairing mutations of CYLD in Italian patients with multiple cylindromas.

Published in:

Clinical Genetics, 2009, v. 76, n. 5, p. 481, doi. 10.1111/j.1399-0004.2009.01259.x

By:

Nasti, S.;
Pastorino, L.;
Bruno, W.;
Gargiulo, S.;
Battistuzzi, L.;
Zavattaro, E.;
Leigheb, G.;
De Francesco, V.;
Tulli, A.;
Mari, F.;
Scarrà, G. Bianchi;
Ghiorzo, P.

Publication type:

Article

Phenotype and genotype in females with POU3F4 mutations.

Published in:

Clinical Genetics, 2009, v. 76, n. 6, p. 558, doi. 10.1111/j.1399-0004.2009.01215.x

By:

Marlin, S.;
Moizard, M. P.;
David, A.;
Chaissang, N.;
Raynaud, M.;
Jonard, L.;
Feldmann, D.;
Loundon, N.;
Denoyelle, F.;
Toutain, A.

Publication type:

Article

Noonan syndrome and neurofibromatosis type I in a family with a novel mutation in NF1.

Published in:

Clinical Genetics, 2009, v. 76, n. 6, p. 524, doi. 10.1111/j.1399-0004.2009.01233.x

By:

Nyström, A. M.;
Ekvall, S.;
Allanson, J.;
Edeby, C.;
Elinder, M.;
Holmström, G.;
Bondeson, M. L.;
Annerén, G.

Publication type:

Article

Screening and instability of FMR1 alleles in a prospective sample of 24,449 mother–newborn pairs from the general population.

Published in:

Clinical Genetics, 2009, v. 76, n. 6, p. 511, doi. 10.1111/j.1399-0004.2009.01237.x

By:

Lévesque, S.;
Dombrowski, C.;
Morel, M.-L.;
Rehel, R.;
Côté, J.-S.;
Bussières, J.;
Morgan, K.;
Rousseau, F.

Publication type:

Article

Primary congenital glaucoma caused by the homozygous F261L CYP1B1 mutation and paternal isodisomy of chromosome 2.

Published in:

Clinical Genetics, 2009, v. 76, n. 6, p. 552, doi. 10.1111/j.1399-0004.2009.01242.x

By:

López-Garrido, M.-P.;
Campos-Mollo, E.;
Harto, M.-Á.;
Escribano, J.

Publication type:

Article

A novel missense mutation in the HAX1 gene in severe congenital neutropenia patients (Kostmann disease).

Published in:

Clinical Genetics, 2009, v. 76, n. 6, p. 569, doi. 10.1111/j.1399-0004.2009.01244.x

By:

Faiyaz-Ul-Haque, M.;
Al-Jefri, A.;
Abalkhail, H. A.;
Toulimat, M.;
Al-Muallimi, M. A.;
Pulicat, M. S.;
Gaafar, A.;
Alaiya, A. A.;
Al-Dayel, F.;
Peltekova, I.;
Zaidi, S. H. E.

Publication type:

Article

General practitioners' attitudes to assessment of genetic risk of common disorders in routine primary care.

Published in:

Clinical Genetics, 2009, v. 76, n. 6, p. 544, doi. 10.1111/j.1399-0004.2009.01245.x

By:

McCahon, D.;
Holder, R.;
Metcalfe, A.;
Clifford, S.;
Gill, P.;
Cole, T.;
Sleightholme, H. V.;
Wilson, S.

Publication type:

Article

Novel PORCN mutations in focal dermal hypoplasia.

Published in:

Clinical Genetics, 2009, v. 76, n. 6, p. 535, doi. 10.1111/j.1399-0004.2009.01248.x

By:

Froyen, G.;
Govaerts, K.;
van Esch, H.;
Verbeeck, J.;
Tuomi, M.-L.;
Heikkilä, H.;
Torniainen, S.;
Devriendt, K.;
Fryns, J.-P.;
Marynen, P.;
Järvel, I.;
Ala-Mello, S.

Publication type:

Article

The ryanodine receptor type 1 gene variants in African American men with exertional rhabdomyolysis and malignant hyperthermia susceptibility.

Published in:

Clinical Genetics, 2009, v. 76, n. 6, p. 564, doi. 10.1111/j.1399-0004.2009.01251.x

By:

Sambuughin, N.;
Capacchione, J.;
Blokhin, A.;
Bayarsaikhan, M.;
Bina, S.;
Muldoon, S.

Publication type:

Article

CFTR mutations in cystic fibrosis patients from Murcia region (southeastern Spain): implications for genetic testing.

Published in:

Clinical Genetics, 2009, v. 76, n. 6, p. 577, doi. 10.1111/j.1399-0004.2009.01252.x

By:

Moya-Quiles, M. R.;
Mondéjar-López, P.;
Pastor-Vivero, M. D.;
González-Gallego, I.;
Juan-Fita, M. J.;
Egea-Mellado, J. M.;
Carbonell, P.;
Casals, T.;
Fernández-Sánchez, A.;
Sánchez-Solís, M;
Glover, G.

Publication type:

Article

Bilateral frontoparietal polymicrogyria (BFPP) syndrome secondary to a 16q12.1-q21 chromosome deletion involving GPR56 gene.

Published in:

Clinical Genetics, 2009, v. 76, n. 6, p. 573, doi. 10.1111/j.1399-0004.2009.01262.x

By:

Borgatti, Renato;
Marelli, Susan;
Bernardini, Laura;
Novelli, Antonio;
Cavallini, Anna;
Tonelli, Alessandra;
Bassi, Maria Teresa;
Dallapiccola, Bruno

Publication type:

Article

Juvenile hemochromatosis due to homozygosity for the G320V mutation in the HJV gene with fatal outcome.

Published in:

Clinical Genetics, 2009, v. 76, n. 5, p. 493, doi. 10.1111/j.1399-0004.2009.01261.x

By:

Brakensiek, Kai;
Fegbeutel, Christine;
Mälzer, Madeleine;
Strüber, Martin;
Kreipe, Hans;
Stuhrmann, Manfred

Publication type:

Article

Sex chromosome sequencing: X-citing findings in mental retardation.

Published in:

Clinical Genetics, 2009, v. 76, n. 6, p. 497, doi. 10.1111/j.1399-0004.2009.01295.x

By:

Kumar, R. A.

Publication type:

Article

Non-coding regulatory genetics of limb malformations.

Published in:

Clinical Genetics, 2009, v. 76, n. 6, p. 499, doi. 10.1111/j.1399-0004.2009.01296.x

By:

Kumar, R. A.

Publication type:

Article

Dandy-Walker malformation in patients with KID syndrome associated with a heterozygote mutation (p.Asp50Asn) in the GJB2 gene encoding connexin 26.

Published in:

Clinical Genetics, 2009, v. 76, n. 4, p. 404, doi. 10.1111/j.1399-0004.2009.01211.x

By:

Todt, Ingo;
Mazereeuw-Hautier, Juliette;
Binder, Barbara;
Willems, Patrick J.

Publication type:

Article

Analysis of the CTNS gene in 32 cystinosis patients from Spain.

Published in:

Clinical Genetics, 2009, v. 76, n. 5, p. 486, doi. 10.1111/j.1399-0004.2009.01222.x

By:

Macías-Vidal, J.;
Rodés, M.;
Hernández-Pérez, J. M.;
Vilaseca, M. A.;
Coll, M. J.

Publication type:

Article

Clinical features of chromosome 22q11.2 microdeletion syndrome in 208 Chilean patients.

Published in:

Clinical Genetics, 2009, v. 76, n. 5, p. 465, doi. 10.1111/j.1399-0004.2009.01234.x

By:

Repetto, G. M.;
Guzmán, M. L.;
Puga, A.;
Calderón, J. F.;
Astete, C. P.;
Aracena, M.;
Arriaza, M.;
Aravena, T.;
Sanz, P.

Publication type:

Article

Novel mutations of the CLCN5 gene including a complex allele and A 5′ UTR mutation in Dent disease 1.

Published in:

Clinical Genetics, 2009, v. 76, n. 4, p. 413, doi. 10.1111/j.1399-0004.2009.01212.x

By:

Tosetto, E.;
Ceol, M.;
Mezzabotta, F.;
Ammenti, A.;
Peruzzi, L.;
Caruso, M. R.;
Barbano, G.;
Vezzoli, G.;
Colussi, G.;
Vergine, G.;
Giordano, M.;
Glorioso, N.;
Degortes, S.;
Soldati, L.;
Sayer, J.;
D'Angelo, A.;
Anglani, F.

Publication type:

Article

Case report: de novo BRCA2 gene mutation in a 35-year-old woman with breast cancer.

Published in:

Clinical Genetics, 2009, v. 76, n. 5, p. 427, doi. 10.1111/j.1399-0004.2009.01246.x

By:

Marshall, M.;
Solomon, S.;
Lawrence Wickerham, D.

Publication type:

Article

An integrated strategy for the diagnosis of neuronal ceroid lipofuscinosis types 1 (CLN1) and 2 (CLN2) in eleven Latin American patients.

Published in:

Clinical Genetics, 2009, v. 76, n. 4, p. 372, doi. 10.1111/j.1399-0004.2009.01214.x

By:

Kohan, R.;
Cismondi, I. A.;
Dodelson Kremer, R.;
Muller, V. J.;
Guelbert, N.;
Tapia Anzolini, V.;
Fietz, M. J.;
Oller Ramírez, A. M.;
Noher Halac, I.

Publication type:

Article

Pseudogene-derived IKBKG gene mutations in incontinentia pigmenti.

Published in:

Clinical Genetics, 2009, v. 76, n. 4, p. 417, doi. 10.1111/j.1399-0004.2009.01232.x

By:

Lee, N.-C.;
Huang, C.-H.;
Hwu, W.-L.;
Chien, Y.-H.;
Chang, Y.-Y.;
Chen, C.-H.;
Ko, T.-M.

Publication type:

Article

Small CGG repeat expansion alleles of FMR1 gene are associated with parkinsonism.

Published in:

Clinical Genetics, 2009, v. 76, n. 5, p. 471, doi. 10.1111/j.1399-0004.2009.01275.x

By:

Loesch, D. Z.;
Khaniani, M. S.;
Slater, H. R.;
Rubio, J. P.;
Bui, Q. M.;
Kotschet, K.;
D'Souza, W.;
Venn, A.;
Kalitsis, P.;
Choo, A. K. H.;
Burgess, T.;
Johnson, L.;
Evans, A.;
Horne, M.

Publication type:

Article

MEFV mutations in Iranian Azeri Turkish patients with familial Mediterranean fever.

Published in:

Clinical Genetics, 2009, v. 76, n. 5, p. 477, doi. 10.1111/j.1399-0004.2009.01270.x

By:

Bonyadi, M.;
Esmaeili, M.;
Jalali, H.;
Somi, M. H.;
Ghaffari, A.;
Rafeey, M.;
Sakha, K.;
Lotfalizadeh, N.;
Pourhassan, A.;
Khoshbaten, M.;
Ardalan, M. R.;
Laghaeian, N.

Publication type:

Article

Chromosome imbalances in syndromic hearing loss.

Published in:

Clinical Genetics, 2009, v. 76, n. 5, p. 458, doi. 10.1111/j.1399-0004.2009.01276.x

By:

Catelani, A. L. P. M.;
Krepischi, A. C. V.;
Kim, C. A.;
Kok, F.;
Otto, P. A.;
Auricchio, M. T. B. M.;
Mazzeu, J. F.;
Uehara, D. T.;
Costa, S. S.;
Knijnenburg, J.;
Tabith Jr., A.;
Vianna-Morgante, A. M.;
Mingroni-Netto, R. C.;
Rosenberg, C.

Publication type:

Article

The contribution of founder mutations to early-onset breast cancer in French-Canadian women.

Published in:

Clinical Genetics, 2009, v. 76, n. 5, p. 421, doi. 10.1111/j.1399-0004.2009.01277.x

By:

Ghadirian, P.;
Robidoux, A.;
Zhang, P.;
Royer, R.;
Akbari, M.;
Zhang, S.;
Fafard, E.;
Costa, M.;
Martin, G.;
Potvin, C.;
Patocskai, E.;
Larouche, N.;
Younan, R.;
Nassif, E.;
Giroux, S.;
Narod, S. A.;
Rousseau, F.;
Foulkes, W. D.

Publication type:

Article

Novel and recurrent mutations in the AIRE gene of autoimmune polyendocrinopathy syndrome type 1 (APS1) patients.

Published in:

Clinical Genetics, 2009, v. 76, n. 5, p. 431, doi. 10.1111/j.1399-0004.2009.01278.x

By:

Faiyaz-Ul-Haque, M.;
Bin-Abbas, B.;
Al-Abdullatif, A.;
Abdullah Abalkhail, H.;
Toulimat, M.;
Al-Gazlan, S.;
Almutawa, A. M.;
Al-Sagheir, A.;
Peltekova, I.;
Al-Dayel, F.;
Zaidi, S. H. E.

Publication type:

Article

Two novel AIRE mutations in autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy (APECED) among Indians.

Published in:

Clinical Genetics, 2009, v. 76, n. 5, p. 441, doi. 10.1111/j.1399-0004.2009.01280.x

By:

Zaidi, G.;
Sahu, R. P.;
Zhang, L.;
George, G.;
Bhavani, N.;
Shah, N.;
Bhatia, V.;
Bhansali, A.;
Jevalikar, G.;
Jayakumar, R. V.;
Eisenbarth, G. S.;
Bhatia, E.

Publication type:

Article

Mutational spectrum of CDKL5 in early-onset encephalopathies: a study of a large collection of French patients and review of the literature.

Published in:

Clinical Genetics, 2009, v. 76, n. 4, p. 357, doi. 10.1111/j.1399-0004.2009.01194.x

By:

Nemos, C.;
Lambert, L.;
Giuliano, F.;
Doray, B.;
Roubertie, A.;
Goldenberg, A.;
Delobel, B.;
Layet, V.;
N’guyen, M. A.;
Saunier, A.;
Verneau, F.;
Jonveaux, P.;
Philippe, C.

Publication type:

Article

Copy number changes of the microcephalin 1 gene ( MCPH1) in patients with autism spectrum disorders.

Published in:

Clinical Genetics, 2009, v. 76, n. 4, p. 348, doi. 10.1111/j.1399-0004.2009.01254.x

By:

Ozgen, H. M.;
van Daalen, E.;
Bolton, P. F.;
Maloney, V. K.;
Huang, S.;
Cresswell, L.;
van den Boogaard, M. J.;
Eleveld, M. J.;
van ‘t Slot, R.;
Hochstenbach, R.;
Beemer, F. A.;
Barrow, M.;
Barber, J. C. K.;
Poot, M.

Publication type:

Article

Trisomic rescue causing reduction to homozygosity for a novel ABCA12 mutation in harlequin ichthyosis.

Published in:

Clinical Genetics, 2009, v. 76, n. 4, p. 392, doi. 10.1111/j.1399-0004.2009.01198.x

By:

Castiglia, D.;
Castori, M.;
Pisaneschi, E.;
Sommi, M.;
Covaciu, C.;
Zambruno, G.;
Fischer, J.;
Magnani, C.

Publication type:

Article

Molecular analysis and clinical aspects of four patients with Chédiak-Higashi syndrome (CHS).

Published in:

Clinical Genetics, 2009, v. 76, n. 4, p. 409, doi. 10.1111/j.1399-0004.2009.01205.x

By:

Scherber, E.;
Beutel, K.;
Ganschow, R.;
Schulz, A.;
Janka, G.;
Stadt, U. zur

Publication type:

Article

Parental SCN1A mutation mosaicism in familial Dravet syndrome.

Published in:

Clinical Genetics, 2009, v. 76, n. 4, p. 398, doi. 10.1111/j.1399-0004.2009.01208.x

By:

Selmer, K. K.;
Eriksson, A.-S.;
Brandal, K.;
Egeland, T.;
Tallaksen, C.;
Undlien, D. E.

Publication type:

Article

Identifying mental health services in clinical genetic settings.

Published in:

Clinical Genetics, 2009, v. 76, n. 4, p. 326, doi. 10.1111/j.1399-0004.2009.01250.x

By:

Cappelli, M.;
Esplen, M. J.;
Wilson, B. J.;
Dorval, M.;
Bottorff, J. L.;
Ly, M.;
Carroll, J. C.;
Allanson, J.;
Humphreys, E.;
Rayson, D.

Publication type:

Article

Hereditary hair loss and the ancient signaling pathways that regulate ectodermal appendage formation.

Published in:

Clinical Genetics, 2009, v. 76, n. 4, p. 332, doi. 10.1111/j.1399-0004.2009.01243.x

By:

Van Raamsdonk, C. D.

Publication type:

Article

Clinical HD.

Published in:: 2009
Publication type:: Abstract

Pre-Clinical HD.

Published in:: 2009
Publication type:: Abstract

Identification of 11 novel mutations in USH2A among Japanese patients with Usher syndrome type 2.

Published in:

Clinical Genetics, 2009, v. 76, n. 4, p. 383, doi. 10.1111/j.1399-0004.2009.01257.x

By:

Nakanishi, H.;
Ohtsubo, M.;
Iwasaki, S.;
Hotta, Y.;
Mizuta, K.;
Mineta, H.;
Minoshima, S.

Publication type:

Article

MicroRNAs become large in hearing loss.

Published in:

Clinical Genetics, 2009, v. 76, n. 4, p. 343, doi. 10.1111/j.1399-0004.2009.01260_2.x

By:

Metzler, M.

Publication type:

Article

Preimplantation genetic diagnosis.

Published in:

Clinical Genetics, 2009, v. 76, n. 4, p. 315, doi. 10.1111/j.1399-0004.2009.01273.x

By:

Geraedts, J. P. M.;
De Wert, G. M. W. R.

Publication type:

Article

Pathogenesis.

Published in:: 2009
Publication type:: Abstract

An ancient disorder under iron control.

Published in:

Clinical Genetics, 2009, v. 76, n. 4, p. 341, doi. 10.1111/j.1399-0004.2009.01260_1.x

By:

Metzler, M.

Publication type:

Article

Medical Treatments.

Published in:: 2009
Publication type:: Abstract

Diverse effects in Friedreich's ataxia place PGC-1α center-stage.

Published in:

Clinical Genetics, 2009, v. 76, n. 4, p. 345, doi. 10.1111/j.1399-0004.2009.01260_3.x

By:

Metzler, M.

Publication type:

Article

Cornelia de Lange syndrome, cohesin, and beyond.

Published in:

Clinical Genetics, 2009, v. 76, n. 4, p. 303, doi. 10.1111/j.1399-0004.2009.01271.x

By:

Liu, J.;
Krantz, I. D.

Publication type:

Article

Animal Models.

Published in:: 2009
Publication type:: Abstract

Care/Health Services.

Published in:: 2009
Publication type:: Abstract