Volume 77; Issue 3

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Clinical Genetics
Volume 77; Issue 3

Clinical Genetics

Volume 77; Issue 3

1

Renal insufficiency, a frequent complication with age in oral-facial-digital syndrome type I

S Saal, L Faivre, Bernard Aral, N Gigot, A Toutain, L Van Maldergem, A Destree, I Maystadt, J-P Cosyns, P-S Jouk, B Loeys, D Chauveau, E Bieth, V Layet, M Mathieu, J Lespinasse, A Teebi, B Franco, E G

Journal:

Clinical Genetics

Year:

2010

Language:

english

File:

PDF, 585 KB

english, 2010

2

Multiple spinal ganglioneuromas in a patient harboring a pathogenic NF1 mutation

C Bacci, R Sestini, F Ammannati, E Bianchini, T Palladino, M Carella, S Melchionda, L Zelante, L Papi

Journal:

Clinical Genetics

Year:

2010

Language:

english

File:

PDF, 780 KB

english, 2010

3

Sudden death: ethical and legal problems of post-mortem forensic genetic testing for hereditary cardiac diseases

BS Elger, K Michaud, F Fellmann, P Mangin

Journal:

Clinical Genetics

Year:

2010

Language:

english

File:

PDF, 487 KB

english, 2010

4

Phenotypic variability, neurological outcome and genetics background of 6-pyruvoyl-tetrahydropterin synthase deficiency

V Leuzzi, Ca Carducci, Cl Carducci, S Pozzessere, A Burlina, R Cerone, D Concolino, MA Donati, L Fiori, C Meli, A Ponzone, F Porta, P Strisciuglio, I Antonozzi, N Blau

Journal:

Clinical Genetics

Year:

2010

Language:

english

File:

PDF, 516 KB

english, 2010

5

Implementation of ironXS: a study of the acceptability and feasibility of genetic screening for hereditary hemochromatosis in high schools

MB Delatycki, M Wolthuizen, V Collins, E Varley, J Craven, KJ Allen, MA Aitken, L Bond, PJ Lockhart, GR Wilson, I Macciocca, SA Metcalfe

Journal:

Clinical Genetics

Year:

2010

Language:

english

File:

PDF, 512 KB

english, 2010

6

Transcripts from a novel BMPR2 termination mutation escape nonsense mediated decay by downstream translation re-initiation: implications for treating pulmonary hypertension

R Hamid, LK Hedges, E Austin, JA Phillips III, JE Loyd, JD Cogan

Journal:

Clinical Genetics

Year:

2010

Language:

english

File:

PDF, 668 KB

english, 2010

7

Stüve–Wiedemann syndrome: long-term follow-up and genetic heterogeneity

C Jung, N Dagoneau, G Baujat, M Le Merrer, A David, M Di Rocco, B Hamel, A Mégarbané, A Superti-Furga, S Unger, A Munnich, V Cormier-Daire

Journal:

Clinical Genetics

Year:

2010

Language:

english

File:

PDF, 542 KB

english, 2010

8

The p.P56S mutation in the VAPB gene is not due to a single founder: the first European case

AD Funke, M Esser, A Krüttgen, J Weis, M Mitne-Neto, M Lazar, AL Nishimura, AD Sperfeld, P Trillenberg, J Senderek, M Krasnianski, M Zatz, S Zierz, M Deschauer

Journal:

Clinical Genetics

Year:

2010

Language:

english

File:

PDF, 463 KB

english, 2010

9

A neuronal gene mutation that kills glia

Journal:

Clinical Genetics

Year:

2010

Language:

english

File:

PDF, 900 KB

english, 2010

10

Not identical: twins studies to reveal epigenetic differences

Journal:

Clinical Genetics

Year:

2010

Language:

english

File:

PDF, 509 KB

english, 2010

11

A K+ channel that channels neurology to nephrology

Journal:

Clinical Genetics

Year:

2010

Language:

english

File:

PDF, 513 KB

english, 2010

12

Erratum

Journal:

Clinical Genetics

Year:

2010

File:

PDF, 427 KB

2010

13

Does family history predict the age at onset of new breast cancers in BRCA1 and BRCA2 mutation-positive families?

S Panchal, L Bordeleau, A Poll, M Llacuachaqui, O Shachar, P Ainsworth, S Armel, A Eisen, P Sun, SA Narod

Journal:

Clinical Genetics

Year:

2010

Language:

english

File:

PDF, 540 KB

english, 2010

14

The Human Genetics Historical Library: an international resource for geneticists and historians

PS Harper, K Pierce

Journal:

Clinical Genetics

Year:

2010

Language:

english

File:

PDF, 486 KB

english, 2010

15

Death in CHARGE syndrome after the neonatal period

JEH Bergman, KD Blake, MK Bakker, GJ Du Marchie Sarvaas, RH Free, CMA Van Ravenswaaij-Arts

Journal:

Clinical Genetics

Year:

2010

Language:

english

File:

PDF, 643 KB

english, 2010

16

Gene copy number variation and common human disease

M Fanciulli, E Petretto, TJ Aitman

Journal:

Clinical Genetics

Year:

2010

Language:

english

File:

PDF, 617 KB

english, 2010

17

Two Italian patients with novel AAAS gene mutation expand allelic and phenotypic spectrum of triple A (Allgrove) syndrome

C Palka, R Giuliani, F Brancati, A Mohn, A Di Muzio, O Calabrese, A Huebner, D De Grandis, F Chiarelli, A Ferlini, L Stuppia

Journal:

Clinical Genetics

Year:

2010

Language:

english

File:

PDF, 607 KB

english, 2010

18

Genetic implications and health consequences following the Chernobyl nuclear accident

M Kozenko, AE Chudley

Journal:

Clinical Genetics

Year:

2010

Language:

english

File:

PDF, 663 KB

english, 2010