Volume 63; Issue 5

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Clinical Genetics
Volume 63; Issue 5

Clinical Genetics

Volume 63; Issue 5

1

Familial predisposition to tufted angioma: identification of blood and lymphatic vascular components

J-C Tille, MA Morris, M-A Bründler, MS Pepper

Journal:

Clinical Genetics

Year:

2003

Language:

english

File:

PDF, 18.99 MB

english, 2003

2

It's only teeth – are there limits to genetic testing?

MJ Aldred, PJM Crawford, R Savarirayan, J Savulescu

Journal:

Clinical Genetics

Year:

2003

Language:

english

File:

PDF, 3.51 MB

english, 2003

3

Interaction between SREBP-1a and APOB polymorphisms influences total and low-density lipoprotein cholesterol levels in patients with coronary artery disease

DLS Rios, AF Vargas, MR Torres, AJ Zago, SM Callegari-Jacques, MH Hutz

Journal:

Clinical Genetics

Year:

2003

Language:

english

File:

PDF, 101 KB

english, 2003

4

Pulmonary involvement in Type 1 Gaucher disease: functional and exercise findings in patients with and without clinical interstitial lung disease

A Miller, LK Brown, GM Pastores, RJ Desnick

Journal:

Clinical Genetics

Year:

2003

Language:

english

File:

PDF, 2.57 MB

english, 2003

5

APOA5-1131T>C polymorphism is associated with triglyceride levels in Chinese men

L Baum, B Tomlinson, GN Thomas

Journal:

Clinical Genetics

Year:

2003

Language:

english

File:

PDF, 84 KB

english, 2003

6

Five new subjects with ring chromosome 22

HA Ishmael, D Cataldi, ML Begleiter, LM Pasztor, MJ Dasouki, MG Butler

Journal:

Clinical Genetics

Year:

2003

Language:

english

File:

PDF, 673 KB

english, 2003

7

Cystic fibrosis in Greece: molecular diagnosis, haplotypes, prenatal diagnosis and carrier identification amongst high-risk individuals

E Kanavakis, A Efthymiadou, S Strofalis, S Doudounakis, J Traeger-Synodinos, M Tzetis

Journal:

Clinical Genetics

Year:

2003

Language:

english

File:

PDF, 121 KB

english, 2003

8

Congenital universal hypertrichosis with deafness and dental anomalies inherited as an X-linked trait

M Tadin-Strapps, JC Salas-Alanis, L Moreno, D Warburton, A Martinez-Mir, AM Christiano

Journal:

Clinical Genetics

Year:

2003

Language:

english

File:

PDF, 96 KB

english, 2003

9

Triple A syndrome: genotype–phenotype assessment

I Prpic, A Huebner, M Persic, K Handschug, M Pavletic

Journal:

Clinical Genetics

Year:

2003

Language:

english

File:

PDF, 77 KB

english, 2003

10

Analysis of marker or complex chromosomal rearrangements present in pre- and post-natal karyotypes utilizing a combination of G-banding, spectral karyotyping and fluorescence in situ hybridization

HHQ Heng, CJ Ye, F Yang, S Ebrahim, G Liu, SW Bremer, CM Thomas, J Ye, TJ Chen, C Tuck-Muller, JW Yu, SA Krawetz, A Johnson

Journal:

Clinical Genetics

Year:

2003

Language:

english

File:

PDF, 2.98 MB

english, 2003

11

Discordant clinical manifestations in monozygotic twins with the identical mutation in the TSC2 gene

N Martin, K Zügge, R Brandt, D Friebel, B Janssen, L B Zimmerhackl

Journal:

Clinical Genetics

Year:

2003

Language:

english

File:

PDF, 185 KB

english, 2003

12

Evaluation of a Tay-Sachs Disease screening program

AA Gason, E Sheffield, A Bankier, MA Aitken, S Metcalfe, K Barlow Stewart, MB Delatycki

Journal:

Clinical Genetics

Year:

2003

Language:

english

File:

PDF, 111 KB

english, 2003

13

Exclusion of PTPN11 mutations in Costello syndrome: further evidence for distinct genetic etiologies for Noonan, cardio–facio–cutaneous and Costello syndromes

M Tartaglia, PD Cotter, G Zampino, BD Gelb, KA Rauen

Journal:

Clinical Genetics

Year:

2003

Language:

english

File:

PDF, 81 KB

english, 2003

14

New mutations, new etiologies for Parkinson disease

S Warby, MLE MacDonald, BS Abrahams, S Warby

Journal:

Clinical Genetics

Year:

2003

Language:

english

File:

PDF, 326 KB

english, 2003

15

Vascular malformations: localized defects in vascular morphogenesis

P Brouillard, M Vikkula

Journal:

Clinical Genetics

Year:

2003

Language:

english

File:

PDF, 1.00 MB

english, 2003

16

Ironing out hemochromatosis heterogeneity

Journal:

Clinical Genetics

Year:

2003

Language:

english

File:

PDF, 326 KB

english, 2003

17

Mutations for a cytochrome c oxidase deficiency found by a novel strategy – up front computation makes the genomic haystack more manageable

Journal:

Clinical Genetics

Year:

2003

Language:

english

File:

PDF, 327 KB

english, 2003