Volume 74; Issue 4

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Clinical Genetics
Volume 74; Issue 4

Clinical Genetics

Volume 74; Issue 4

1

Birth defects before epigenesis

Journal:

Clinical Genetics

Year:

2008

Language:

english

File:

PDF, 972 KB

english, 2008

2

Alu-related 5q35 microdeletions in Sotos syndrome

J Mochizuki, H Saitsu, T Mizuguchi, A Nishimura, R Visser, N Kurotaki, N Miyake, N Unno, N Matsumoto

Journal:

Clinical Genetics

Year:

2008

Language:

english

File:

PDF, 1.26 MB

english, 2008

3

Increased release and activity of matrix metalloproteinase-9 in patients with mandibuloacral dysplasia type A, a rare premature ageing syndrome

F Lombardi, GF Fasciglione, MR D’Apice, A Vielle, M D’Adamo, P Sbraccia, S Marini, P Borgiani, M Coletta, G Novelli

Journal:

Clinical Genetics

Year:

2008

Language:

english

File:

PDF, 244 KB

english, 2008

4

Attitudes antecedent to transition to self-management of a chronic genetic disorder

E Giarelli, BA Bernhardt, RE Pyeritz

Journal:

Clinical Genetics

Year:

2008

Language:

english

File:

PDF, 153 KB

english, 2008

5

Metachromatic leukodystrophy – mutation analysis provides further evidence of genotype–phenotype correlation

A Biffi, M Cesani, F Fumagalli, U Del Carro, C Baldoli, S Canale, S Gerevini, S Amadio, M Falautano, A Rovelli, G Comi, MG Roncarolo, M Sessa

Journal:

Clinical Genetics

Year:

2008

Language:

english

File:

PDF, 338 KB

english, 2008

6

Gaucher disease diagnosed in a 30-year-old black man

P Nithya, A Constantine, V Roger, B Albert

Journal:

Clinical Genetics

Year:

2008

Language:

english

File:

PDF, 161 KB

english, 2008

7

Alterations in the SMARCB1 (INI1) tumor suppressor gene in familial schwannomatosis

C Boyd, MJ Smith, L Kluwe, A Balogh, M MacCollin, SR Plotkin

Journal:

Clinical Genetics

Year:

2008

Language:

english

File:

PDF, 317 KB

english, 2008

8

A novel 19-bp deletion of exon 15 in the HMBS gene causing acute intermittent porphyria associating with rhabdomyolysis during an acute attack

A Yrjönen, E Pischik, S Mehtälä, R Kauppinen

Journal:

Clinical Genetics

Year:

2008

Language:

english

File:

PDF, 100 KB

english, 2008

9

Carrier screening for cystic fibrosis in US genetic testing laboratories: a survey of laboratory directors

DJ Kaufman, SH Katsanis, GH Javitt, JA Murphy, JA Scott, KL Hudson

Journal:

Clinical Genetics

Year:

2008

Language:

english

File:

PDF, 114 KB

english, 2008

10

MicroRNA epigenetic alterations: predicting biomarkers and therapeutic targets in human diseases

Y Wang, Y Liang, Q Lu

Journal:

Clinical Genetics

Year:

2008

Language:

english

File:

PDF, 166 KB

english, 2008

11

MicroRNAs in development and disease

AE Erson, EM Petty

Journal:

Clinical Genetics

Year:

2008

Language:

english

File:

PDF, 226 KB

english, 2008

12

Confirmation of RAX gene involvement in human anophthalmia

L Lequeux, M Rio, A Vigouroux, M Titeux, H Etchevers, F Malecaze, N Chassaing, P Calvas

Journal:

Clinical Genetics

Year:

2008

Language:

english

File:

PDF, 219 KB

english, 2008

13

Promoting ectopic pancreatic fates: pancreas development and future diabetes therapies

EJ Pearl, ME Horb

Journal:

Clinical Genetics

Year:

2008

Language:

english

File:

PDF, 269 KB

english, 2008

14

STXBP1: the second synaptic vesicle release gene involved in epilepsy

Journal:

Clinical Genetics

Year:

2008

Language:

english

File:

PDF, 68 KB

english, 2008

15

Williams–Beuren syndrome: novel risk alleles in transmitting parents

TD Babatz, RA Kumar

Journal:

Clinical Genetics

Year:

2008

Language:

english

File:

PDF, 136 KB

english, 2008

16

Common vs rare variants and a case for neurodevelopment in schizophrenia

TD Babatz, RA Kumar

Journal:

Clinical Genetics

Year:

2008

Language:

english

File:

PDF, 139 KB

english, 2008

17

Victor A. McKusick, M.D.: A legend in his own time

Hall, Judith G.

Journal:

Clinical Genetics

Year:

2008

Language:

english

File:

PDF, 92 KB

english, 2008