Volume 76; Issue 4

Main
Clinical Genetics
Volume 76; Issue 4

Clinical Genetics

Volume 76; Issue 4

1

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

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

Journal:

Clinical Genetics

Year:

2009

Language:

english

File:

PDF, 1.10 MB

english, 2009

2

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

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

Journal:

Clinical Genetics

Year:

2009

Language:

english

File:

PDF, 665 KB

english, 2009

3

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

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

Journal:

Clinical Genetics

Year:

2009

Language:

english

File:

PDF, 450 KB

english, 2009

4

Parental SCN1A mutation mosaicism in familial Dravet syndrome

KK Selmer, A-S Eriksson, K Brandal, T Egeland, C Tallaksen, DE Undlien

Journal:

Clinical Genetics

Year:

2009

Language:

english

File:

PDF, 514 KB

english, 2009

5

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

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

Journal:

Clinical Genetics

Year:

2009

Language:

english

File:

PDF, 559 KB

english, 2009

6

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

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

Journal:

Clinical Genetics

Year:

2009

Language:

english

File:

PDF, 526 KB

english, 2009

7

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

R Kohan, IA Cismondi, R Dodelson Kremer, VJ Muller, N Guelbert, V Tapia Anzolini, MJ Fietz, AM Oller Ramírez, I Noher Halac

Journal:

Clinical Genetics

Year:

2009

Language:

english

File:

PDF, 682 KB

english, 2009

8

Pseudogene-derived IKBKG gene mutations in incontinentia pigmenti

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

Journal:

Clinical Genetics

Year:

2009

Language:

english

File:

PDF, 537 KB

english, 2009

9

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

CD Van Raamsdonk

Journal:

Clinical Genetics

Year:

2009

Language:

english

File:

PDF, 501 KB

english, 2009

10

Identifying mental health services in clinical genetic settings

M Cappelli, MJ Esplen, BJ Wilson, M Dorval, JL Bottorff, M Ly, JC Carroll, J Allanson, E Humphreys, D Rayson

Journal:

Clinical Genetics

Year:

2009

Language:

english

File:

PDF, 466 KB

english, 2009

11

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

HM Ozgen, E Van Daalen, PF Bolton, VK Maloney, S Huang, L Cresswell, MJ Van Den Boogaard, MJ Eleveld, R Van‘t Slot, R Hochstenbach, FA Beemer, M Barrow, JCK Barber, M Poot

Journal:

Clinical Genetics

Year:

2009

Language:

english

File:

PDF, 677 KB

english, 2009

12

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

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

Journal:

Clinical Genetics

Year:

2009

Language:

english

File:

PDF, 716 KB

english, 2009

13

An ancient disorder under iron control

Journal:

Clinical Genetics

Year:

2009

Language:

english

File:

PDF, 609 KB

english, 2009

14

MicroRNAs become large in hearing loss

Journal:

Clinical Genetics

Year:

2009

Language:

english

File:

PDF, 613 KB

english, 2009

15

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

Journal:

Clinical Genetics

Year:

2009

Language:

english

File:

PDF, 601 KB

english, 2009

16

Cornelia de Lange syndrome, cohesin, and beyond

J Liu, ID Krantz

Journal:

Clinical Genetics

Year:

2009

Language:

english

File:

PDF, 655 KB

english, 2009

17

Preimplantation genetic diagnosis

JPM Geraedts, GMWR De Wert

Journal:

Clinical Genetics

Year:

2009

Language:

english

File:

PDF, 775 KB

english, 2009