Volume 80; Issue 5

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Clinical Genetics
Volume 80; Issue 5

Clinical Genetics

Volume 80; Issue 5

1

Familial Simpson–Golabi–Behmel syndrome: studies of X-chromosome inactivation and clinical phenotypes in two female individuals with GPC3 mutations

S Yano, B Baskin, A Bagheri, Y Watanabe, K Moseley, A Nishimura, N Matsumoto, PN Ray

Journal:

Clinical Genetics

Year:

2011

Language:

english

File:

PDF, 626 KB

english, 2011

2

Krabbe leukodystrophy in a selected population with high rate of late onset forms: longer survival linked to c.121G>A (p.Gly41Ser) mutation

A Fiumara, R Barone, A Arena, M Filocamo, W Lissens, L Pavone, G Sorge

Journal:

Clinical Genetics

Year:

2011

Language:

english

File:

PDF, 718 KB

english, 2011

3

An autosomal recessive syndrome of severe cognitive impairment, dysmorphic facies and skeletal abnormalities maps to the long arm of chromosome 17

M Al-Owain, AM Alazami, FS Alkuraya

Journal:

Clinical Genetics

Year:

2011

Language:

english

File:

PDF, 631 KB

english, 2011

4

Female Hunter syndrome caused by a single mutation and familial XCI skewing: implications for other X-linked disorders

A Kloska, J Jakóbkiewicz-Banecka, A Tylki-Szymańska, B Czartoryska, G Węgrzyn

Journal:

Clinical Genetics

Year:

2011

Language:

english

File:

PDF, 682 KB

english, 2011

5

Paternal mosaicism of an STXBP1 mutation in OS

H Saitsu, H Hoshino, M Kato, K Nishiyama, I Okada, Y Yoneda, Y Tsurusaki, H Doi, N Miyake, M Kubota, K Hayasaka, N Matsumoto

Journal:

Clinical Genetics

Year:

2011

Language:

english

File:

PDF, 781 KB

english, 2011

6

Hemizygous deletions on chromosome 1p21.3 involving the DPYD gene in individuals with autism spectrum disorder

MT Carter, SM Nikkel, BA Fernandez, CR Marshall, A Noor, AC Lionel, A Prasad, D Pinto, AM Joseph-George, C Noakes, C Fairbrother-Davies, W Roberts, J Vincent, R Weksberg, SW Scherer

Journal:

Clinical Genetics

Year:

2011

Language:

english

File:

PDF, 759 KB

english, 2011

7

Spinocerebellar ataxia type 17 in Indian patients: two rare cases of homozygous expansions

RR Hire, SM Katrak, S Vaidya, K Radhakrishnan, M Seshadri

Journal:

Clinical Genetics

Year:

2011

Language:

english

File:

PDF, 587 KB

english, 2011

8

Maternal uniparental isodisomy and heterodisomy on chromosome 6 encompassing a CUL7 gene mutation causing 3M syndrome

K Sasaki, N Okamoto, K Kosaki, T Yorifuji, O Shimokawa, H Mishima, K-i Yoshiura, N Harada

Journal:

Clinical Genetics

Year:

2011

Language:

english

File:

PDF, 834 KB

english, 2011

9

Congenital myasthenic syndrome associated with epidermolysis bullosa caused by homozygous mutations in PLEC1 and CHRNE

RA Maselli, J Arredondo, O Cagney, T Mozaffar, S Skinner, S Yousif, RR Davis, JP Gregg, M Sivak, TH Konia, K Thomas, RL Wollmann

Journal:

Clinical Genetics

Year:

2011

Language:

english

File:

PDF, 848 KB

english, 2011

10

Early cerebral manifestations in a young female with Fabry disease with skewed X-inactivation

MG Bouwman, SM Rombach, GE Linthorst, BJHM Poorthuis, RH Lekanne Deprez, JMFG Aerts, FA Wijburg

Journal:

Clinical Genetics

Year:

2011

Language:

english

File:

PDF, 515 KB

english, 2011

11

Mutations in the PDYN gene (SCA23) are not a frequent cause of dominant ataxia in Central Europe

J Schicks, M Synofzik, C Beetz, F Schiele, L Schöls

Journal:

Clinical Genetics

Year:

2011

Language:

english

File:

PDF, 473 KB

english, 2011

12

Mutational analysis of PMP22, GJB1 and MPZ in Greek Charcot–Marie–Tooth type 1 neuropathy patients

G Karadima, P Floroskufi, G Koutsis, D Vassilopoulos, M Panas

Journal:

Clinical Genetics

Year:

2011

Language:

english

File:

PDF, 492 KB

english, 2011

13

Identification of new cases of early-onset colorectal cancer with an MLH1 epimutation in an ethnically diverse South African cohort

MP Hitchins, SE Owens, C-T Kwok, G Godsmark, UF Algar, RS Ramesar

Journal:

Clinical Genetics

Year:

2011

Language:

english

File:

PDF, 873 KB

english, 2011

14

Is Hardikar syndrome distinct from Kabuki (Niikawa–Kuroki) syndrome?

I Ejarque, V Uliana, F Forzano, C Marciano, G Merla, L Zelante, E Di Maria, F Faravelli

Journal:

Clinical Genetics

Year:

2011

Language:

english

File:

PDF, 547 KB

english, 2011

15

Using Alzheimer's disease as a model for genetic risk disclosure: implications for personal genomics

JS Roberts, KD Christensen, RC Green

Journal:

Clinical Genetics

Year:

2011

Language:

english

File:

PDF, 587 KB

english, 2011

16

The accuracy of risks for cancer in Lynch syndrome

Journal:

Clinical Genetics

Year:

2011

Language:

english

File:

PDF, 96 KB

english, 2011

17

Looping the link between Gaucher and Parkinson's disease

Journal:

Clinical Genetics

Year:

2011

Language:

english

File:

PDF, 97 KB

english, 2011

18

Skipping along: an exon skipping therapy shows promise for Duchenne muscular dystrophy

Journal:

Clinical Genetics

Year:

2011

Language:

english

File:

PDF, 511 KB

english, 2011

19

Development and validation of an instrument to measure the impact of genetic testing on self-concept in Lynch syndrome

MJ Esplen, N Stuckless, S Gallinger, M Aronson, H Rothenmund, K Semotiuk, J Stokes, C Way, J Green, K Butler, HV Petersen, J Wong

Journal:

Clinical Genetics

Year:

2011

Language:

english

File:

PDF, 821 KB

english, 2011