Volume 70; Issue 3

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Clinical Genetics
Volume 70; Issue 3

Clinical Genetics

Volume 70; Issue 3

1

Cryptic mosaicism for monosomy 20 identified in renal tract cells

E-G Stefanou, M Crocker, A Boon, H Stewart

Journal:

Clinical Genetics

Year:

2006

Language:

english

File:

PDF, 204 KB

english, 2006

2

Applications and limitations of empiric data in provision of recurrence risks for schizophrenia: a practical review for healthcare professionals providing clinical psychiatric genetics consultations

JC Austin, HL Peay

Journal:

Clinical Genetics

Year:

2006

Language:

english

File:

PDF, 129 KB

english, 2006

3

A novel locus for alopecia with mental retardation syndrome (APMR2) maps to chromosome 3q26.2-q26.31

A Wali, P John, A Gul, K Lee, MS Chishti, G Ali, MJ Hassan, SM Leal, W Ahmad

Journal:

Clinical Genetics

Year:

2006

Language:

english

File:

PDF, 412 KB

english, 2006

4

Large genomic alterations in hMSH2 and hMLH1 in early-onset colorectal cancer: identification of a large complex de novo hMLH1 alteration

L Smith, A Tesoriero, L Mead, S Royce, G Grubb, J Young, G Giles, M Jenkins, F Macrae, JL Hopper, MC Southey

Journal:

Clinical Genetics

Year:

2006

Language:

english

File:

PDF, 91 KB

english, 2006

5

Freeman–Sheldon syndrome and Sheldon–Hall syndrome: contracting new genotypes

LA Wagner, G Mazarei

Journal:

Clinical Genetics

Year:

2006

Language:

english

File:

PDF, 133 KB

english, 2006

6

When bone becomes your enemy: fibrodysplasia ossificans progressiva

Journal:

Clinical Genetics

Year:

2006

Language:

english

File:

PDF, 166 KB

english, 2006

7

Caps off: Dkc1 makes the IRESes bloom!

Journal:

Clinical Genetics

Year:

2006

Language:

english

File:

PDF, 172 KB

english, 2006

8

Mosaic maternal uniparental isodisomy for chromosome 7q21-qter

M-P Reboul, O Tandonnet, N Biteau, C Belet-de Putter, L Rebouissoux, K Moradkhani, PY Vu, R Saura, B Arveiler, D Lacombe, L Taine, A Iron

Journal:

Clinical Genetics

Year:

2006

Language:

english

File:

PDF, 319 KB

english, 2006

9

Risk-reducing surgery, screening and chemoprevention practices of BRCA1 and BRCA2 mutation carriers: a prospective cohort study

K-A Phillips, MA Jenkins, GJ Lindeman, SA McLachlan, JM McKinley, PC Weideman, JL Hopper, ML Friedlander, kConFab Investigators

Journal:

Clinical Genetics

Year:

2006

Language:

english

File:

PDF, 122 KB

english, 2006

10

E-cadherin promoter polymorphism (C-160A) and risk of recurrence in patients with superficial bladder cancer

J Lin, CP Dinney, HB Grossman, M Jhamb, Y Zhu, MR Spitz, X Wu

Journal:

Clinical Genetics

Year:

2006

Language:

english

File:

PDF, 111 KB

english, 2006

11

CYLD mutations underlie Brooke–Spiegler, familial cylindromatosis, and multiple familial trichoepithelioma syndromes

AL Young, R Kellermayer, R Szigeti, A Tészás, S Azmi, JT Celebi

Journal:

Clinical Genetics

Year:

2006

Language:

english

File:

PDF, 222 KB

english, 2006

12

Mutation analysis of the PMP22, MPZ, EGR2, LITAF, and GJB1 genes in Korean patients with Charcot-Marie-Tooth neuropathy type 1

H-K Park, BJ Kim, DH Sung, C-S Ki, J-W Kim

Journal:

Clinical Genetics

Year:

2006

Language:

english

File:

PDF, 244 KB

english, 2006

13

Genetic and other diseases in the pottery of Tumaco-La Tolita culture in Colombia–Ecuador

JE Bernal, I Briceno

Journal:

Clinical Genetics

Year:

2006

Language:

english

File:

PDF, 235 KB

english, 2006

14

Spectrum of pathogenic mutations and associated polymorphisms in a cohort of 44 unrelated patients with long QT syndrome

G Millat, P Chevalier, L Restier-Miron, A Da Costa, P Bouvagnet, B Kugener, L Fayol, C Gonzàlez Armengod, B Oddou, V Chanavat, E Froidefond, R Perraudin, R Rousson, C Rodriguez-Lafrasse

Journal:

Clinical Genetics

Year:

2006

Language:

english

File:

PDF, 475 KB

english, 2006

15

Hemochromatosis gene mutations in patients with alcoholic cirrhosis

N StarèeviæÈizmareviæ, S Stepec, S Ristić, S Milić, B Brajenović-Milić, D Štimac, M Kapović, B Peterlin

Journal:

Clinical Genetics

Year:

2006

Language:

english

File:

PDF, 70 KB

english, 2006

16

Note

Journal:

Clinical Genetics

Year:

2006

File:

PDF, 37 KB

2006

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