Volume 75; Issue 3

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Clinical Genetics
Volume 75; Issue 3

Clinical Genetics

Volume 75; Issue 3

1

Homozygous NLRP7 mutations in a Moroccan woman with recurrent reproductive failure

J Puechberty, C Rittore, L Philibert, G Lefort, G Burlet, P Bénos, L Reyftmann, P Sarda, I Touitou

Journal:

Clinical Genetics

Année:

2009

Langue:

english

Fichier:

PDF, 120 KB

english, 2009

2

The clinical variability of the MECP2 duplication syndrome: description of two families with duplications excluding L1CAM and FLNA

EP Kirk, V Malaty-Brevaud, N Martini, C Lacoste, N Levy, K Maclean, L Davies, N Philip, C Badens

Journal:

Clinical Genetics

Année:

2009

Langue:

english

Fichier:

PDF, 134 KB

english, 2009

3

Epimutation at human chromosome 14q32.2 in a boy with a upd(14)mat-like clinical phenotype

U Zechner, N Kohlschmidt, G Rittner, N Damatova, V Beyer, T Haaf, O Bartsch

Journal:

Clinical Genetics

Année:

2009

Langue:

english

Fichier:

PDF, 603 KB

english, 2009

4

Breast and ovarian cancer risk perception after prophylactic salpingo-oophorectomy due to an inherited mutation in the BRCA1 or BRCA2 gene

A Finch, K Metcalfe, J Lui, C Springate, R Demsky, S Armel, B Rosen, J Murphy, L Elit, P Sun, S Narod

Journal:

Clinical Genetics

Année:

2009

Langue:

english

Fichier:

PDF, 86 KB

english, 2009

5

Mutations in FAM20C also identified in non-lethal osteosclerotic bone dysplasia

MA Simpson, A Scheuerle, J Hurst, MA Patton, H Stewart, AH Crosby

Journal:

Clinical Genetics

Année:

2009

Langue:

english

Fichier:

PDF, 503 KB

english, 2009

6

Preimplantation genetic diagnosis in an HIV-serodiscordant couple carrier for sickle cell disease: lessons from a case report

E Gonzalez-Merino, V Zengbe, AS Vannin, I Place, A Bostan, S Emiliani, C Liesnard, JC Goffard, M Abramowicz, Y Englert

Journal:

Clinical Genetics

Année:

2009

Langue:

english

Fichier:

PDF, 83 KB

english, 2009

7

Severe phenotype with cis-acting heterozygous PMP22 mutations

D Niedrist, F Joncourt, G Mátyás, A Müller

Journal:

Clinical Genetics

Année:

2009

Langue:

english

Fichier:

PDF, 83 KB

english, 2009

8

Prevalence of dural ectasia in 63 gene-mutation-positive patients with features of Marfan syndrome type 1 and Loeys-Dietz syndrome and report of 22 novel FBN1 mutations

B Söylen, KK Singh, A Abuzainin, K Rommel, H Becker, M Arslan-Kirchner, J Schmidtke

Journal:

Clinical Genetics

Année:

2009

Langue:

english

Fichier:

PDF, 91 KB

english, 2009

9

Clinical and genetic analysis of the CHD7 gene in Korean patients with CHARGE syndrome

Y-W Lee, SC Kim, YL Shin, J-W Kim, HS Hong, YK Lee, C-S Ki

Journal:

Clinical Genetics

Année:

2009

Langue:

english

Fichier:

PDF, 182 KB

english, 2009

10

Identities and frequencies of mutations of the otoferlin gene (OTOF) causing DFNB9 deafness in Pakistan

BY Choi, ZM Ahmed, S Riazuddin, MA Bhinder, M Shahzad, T Husnain, S Riazuddin, AJ Griffith, TB Friedman

Journal:

Clinical Genetics

Année:

2009

Langue:

english

Fichier:

PDF, 325 KB

english, 2009

11

Role of mutational analysis in diagnosis of tuberous sclerosis complex

EA Vail, SK Rakowski, AL Numis, EA Thiele

Journal:

Clinical Genetics

Année:

2009

Langue:

english

Fichier:

PDF, 72 KB

english, 2009

12

A molecular approach for identifying individuals with Li–Fraumeni syndrome who have a limited family history

P Ang, IHK Lim, RYY Yong, ASG Lee

Journal:

Clinical Genetics

Année:

2009

Langue:

english

Fichier:

PDF, 185 KB

english, 2009

13

Noncoding RNAs in mental retardation

KE Szulwach, P Jin, RS Alisch

Journal:

Clinical Genetics

Année:

2009

Langue:

english

Fichier:

PDF, 387 KB

english, 2009

14

4p16.3 haplotype modifying age at onset of Huntington disease

A Nørremølle, E Budtz-Jørgensen, K Fenger, JE Nielsen, SA Sørensen, L Hasholt

Journal:

Clinical Genetics

Année:

2009

Langue:

english

Fichier:

PDF, 236 KB

english, 2009

15

Skoura – a genetic island for congenital insensitivity to pain and anhidrosis among Moroccan Jews, as determined by a novel mutation in the NTRK1 gene

C Suriu, M Khayat, M Weiler, N Kfir, C Cohen, A Zinger, C Aslanidis, G Schmitz, TC Falik-Zaccai

Journal:

Clinical Genetics

Année:

2009

Langue:

english

Fichier:

PDF, 200 KB

english, 2009

16

Two novel LKB1 mutations in Colombian Peutz–Jeghers syndrome patients

A Vélez, MH Gaitan, JR Marquez, A Castaño, JI Restrepo, S Jaramillo, A Gamarra, M Novelli, MM Echeverry, I Tomlinson, LG Carvajal-Carmona

Journal:

Clinical Genetics

Année:

2009

Langue:

english

Fichier:

PDF, 160 KB

english, 2009

17

Toriello–Carey syndrome in a patient with a de novo balanced translocation [46,XY,t(2;14)(q33;q22)] interrupting SATB2

DH Tegay, KK Chan, L Leung, C Wang, S Burkett, G Stone, R Stanyon, HV Toriello, E Hatchwell

Journal:

Clinical Genetics

Année:

2009

Langue:

english

Fichier:

PDF, 277 KB

english, 2009

18

A prickly cause of progressive myoclonic epilepsy

Journal:

Clinical Genetics

Année:

2009

Langue:

english

Fichier:

PDF, 95 KB

english, 2009

19

Finding bald spots on chromosome 20p11

Journal:

Clinical Genetics

Année:

2009

Langue:

english

Fichier:

PDF, 39 KB

english, 2009

20

LRTOMT: a new tone in understanding the symphony of non-syndromic deafness

Journal:

Clinical Genetics

Année:

2009

Langue:

english

Fichier:

PDF, 93 KB

english, 2009