Volume 82; Issue 1

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Clinical Genetics
Volume 82; Issue 1

Clinical Genetics

Volume 82; Issue 1

1

Fragile X-associated tremor/ataxia phenotype in a male carrier of unmethylated full mutation in the FMR1 gene

D Z Loesch, S Sherwell, G Kinsella, F Tassone, A Taylor, D Amor, S Sung, A Evans

Journal:

Clinical Genetics

Year:

2012

Language:

english

File:

PDF, 556 KB

english, 2012

2

Phase analysis identifies compound heterozygous deletions of the PARK2 gene in patients with early-onset Parkinson disease

S Y Kim, M W Seong, B S Jeon, S Y Kim, H S Ko, J Y Kim, S S Park

Journal:

Clinical Genetics

Year:

2012

Language:

english

File:

PDF, 676 KB

english, 2012

3

Molecular testing in congenital adrenal hyperplasia due to 21α-hydroxylase deficiency in the era of newborn screening

K Sarafoglou, C P Lorentz, N Otten, W S Oetting, S K G Grebe

Journal:

Clinical Genetics

Year:

2012

Language:

english

File:

PDF, 508 KB

english, 2012

4

Novel TMPRSS3 variants in Pakistani families with autosomal recessive non-syndromic hearing impairment

K Lee, S Khan, A Islam, M Ansar, P B Andrade, S Kim, R L P Santos-Cortez, W Ahmad, S M Leal

Journal:

Clinical Genetics

Year:

2012

Language:

english

File:

PDF, 896 KB

english, 2012

5

A novel homozygous missense mutation in WNT10B in familial split-hand/foot malformation

S Khan, S Basit, F K Zimri, N Ali, G Ali, M Ansar, W Ahmad

Journal:

Clinical Genetics

Year:

2012

Language:

english

File:

PDF, 881 KB

english, 2012

6

Is PATCHED an important candidate gene for neural tube defects? Cranial and thoracic neural tube defects in a family with Gorlin syndrome: a case report

H Roudgari, P A Farndon, A D Murray, C Hardy, Z Miedzybrodzka

Journal:

Clinical Genetics

Year:

2012

Language:

english

File:

PDF, 543 KB

english, 2012

7

Clinical heterogeneity in Italian patients with amyotrophic lateral sclerosis

I Piaceri, M Del Mastio, A Tedde, S Bagnoli, S Latorraca, F Massaro, M Paganini, A Corrado, S Sorbi, B Nacmias

Journal:

Clinical Genetics

Year:

2012

Language:

english

File:

PDF, 498 KB

english, 2012

8

What can we learn from old microdeletion syndromes using array-CGH screening?

A L Mosca-Boidron, S Bouquillon, L Faivre, P Callier, J Andrieux, N Marle, C Bonnet, C Vincent-Delorme, M Berri, G Plessis, S Manouvrier-Hanu, A Dieux-Coeslier, C Thauvin-Robinet, E Pipiras, A Delahay

Journal:

Clinical Genetics

Year:

2012

Language:

english

File:

PDF, 582 KB

english, 2012

9

JAG1 mutations are found in approximately one third of patients presenting with only one or two clinical features of Alagille syndrome

K Guegan, K Stals, M Day, P Turnpenny, S Ellard

Journal:

Clinical Genetics

Year:

2012

Language:

english

File:

PDF, 620 KB

english, 2012

10

Aarskog-Scott syndrome: first report of a duplication in the FGD1 gene

N Ronce, I Maystadt, C Hubert, S Vonwill, K Devriendt, M-P Moizard, M Raynaud

Journal:

Clinical Genetics

Year:

2012

Language:

english

File:

PDF, 662 KB

english, 2012

11

Rare occurrence of PALB2 mutations in ovarian cancer patients from the Volga-Ural region

D Prokofyeva, N Bogdanova, M Bermisheva, G Zinnatullina, P Hillemanns, E Khusnutdinova, T Dörk

Journal:

Clinical Genetics

Year:

2012

Language:

english

File:

PDF, 553 KB

english, 2012

12

Colon-specific phenotype in Lynch syndrome associated with EPCAM deletion

P Grandval, S Baert-Desurmont, F Bonnet, M Bronner, M-P Buisine, C Colas, T Noguchi, M-O North, J-M Rey, J Tinat, C Toulas, S Olschwang

Journal:

Clinical Genetics

Year:

2012

Language:

english

File:

PDF, 481 KB

english, 2012

13

Stüve–Wiedemann syndrome and related bent bone dysplasias

N A Akawi, B R Ali, L Al-Gazali

Journal:

Clinical Genetics

Year:

2012

Language:

english

File:

PDF, 970 KB

english, 2012

14

The Ehlers–Danlos syndrome, a disorder with many faces

A De Paepe, F Malfait

Journal:

Clinical Genetics

Year:

2012

Language:

english

File:

PDF, 934 KB

english, 2012

15

Arterial anomalies in arterial tortuosity syndrome: a sour-sweet pathology?

M Wessels, P J Willems

Journal:

Clinical Genetics

Year:

2012

Language:

english

File:

PDF, 527 KB

english, 2012

16

Chinese Americans' views of prenatal genetic testing in the genomic era: a qualitative study

Lei-Shih Chen, Mei Zhao, Qiong Zhou, Lei Xu

Journal:

Clinical Genetics

Year:

2012

Language:

english

File:

PDF, 511 KB

english, 2012

17

Deficiency of the Y14 protein is a critical factor underlying the etiology of thrombocytopenia with absent radii syndrome

Journal:

Clinical Genetics

Year:

2012

Language:

english

File:

PDF, 562 KB

english, 2012

18

Whole genomes in the clinic: uncovering de novo mutations in sporadic infantile epilepsy

Journal:

Clinical Genetics

Year:

2012

Language:

english

File:

PDF, 519 KB

english, 2012

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