Volume 78; Issue 5

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Clinical Genetics
Volume 78; Issue 5

Clinical Genetics

Volume 78; Issue 5

1

Molecular characterization of five patients with homocystinuria due to severe methylenetetrahydrofolate reductase deficiency

R Urreizti, AA Moya-García, A Pino-Ángeles, M Cozar, A Langkilde, U Fanhoe, C Esteves, J Arribas, MA Vilaseca, B Pérez-Dueñas, M Pineda, V González, R Artuch, A Baldellou, L Vilarinho, B Fowler, A Rib

Journal:

Clinical Genetics

Year:

2010

Language:

english

File:

PDF, 761 KB

english, 2010

2

Identification and molecular characterization of two novel chromosomal deletions associated with autism

W-H Chien, SS-F Gau, Y-Y Wu, Y-S Huang, J-S Fang, Y-J Chen, W-T Soong, Y-N Chiu, C-H Chen

Journal:

Clinical Genetics

Year:

2010

Language:

english

File:

PDF, 815 KB

english, 2010

3

Mapping of three novel loci for non-syndromic autosomal recessive mental retardation (NS-ARMR) in consanguineous families from Pakistan

MA Rafiq, M Ansar, CR Marshall, A Noor, N Shaheen, A Mowjoodi, MA Khan, G Ali, M Amin-ud-Din, L Feuk, JB Vincent, SW Scherer

Journal:

Clinical Genetics

Year:

2010

Language:

english

File:

PDF, 639 KB

english, 2010

4

The role of germline AIP, MEN1, PRKAR1A, CDKN1B and CDKN2C mutations in causing pituitary adenomas in a large cohort of children, adolescents, and patients with genetic syndromes

CA Stratakis, MA Tichomirowa, S Boikos, MF Azevedo, M Lodish, M Martari, S Verma, AF Daly, M Raygada, MF Keil, J Papademetriou, L Drori-Herishanu, A Horvath, KM Tsang, M Nesterova, S Franklin, J-F Van

Journal:

Clinical Genetics

Year:

2010

Language:

english

File:

PDF, 660 KB

english, 2010

5

A large cohort study of GJB2 mutations in Japanese hearing loss patients

K Tsukada, S Nishio, S Usami, the Deafness Gene Study Consortium

Journal:

Clinical Genetics

Year:

2010

Language:

english

File:

PDF, 1017 KB

english, 2010

6

Refining the phenotype associated with MEF2C haploinsufficiency

F Novara, S Beri, R Giorda, E Ortibus, S Nageshappa, F Darra, B Dalla Bernardina, O Zuffardi, H Van Esch

Journal:

Clinical Genetics

Year:

2010

Language:

english

File:

PDF, 687 KB

english, 2010

7

Novel splice-site mutations and a large intragenic deletion in PLA2G6 associated with a severe and rapidly progressive form of infantile neuroaxonal dystrophy

A Tonelli, R Romaniello, R Grasso, A Cavallini, A Righini, N Bresolin, R Borgatti, MT Bassi

Journal:

Clinical Genetics

Year:

2010

Language:

english

File:

PDF, 708 KB

english, 2010

8

Hereditary hemorrhagic telangiectasia: two distinct ENG deletions in one family

W Wooderchak, F Gedge, M McDonald, P Krautscheid, X Wang, J Malkiewicz, CJ Bukjiok, T Lewis, P Bayrak-Toydemir

Journal:

Clinical Genetics

Year:

2010

Language:

english

File:

PDF, 687 KB

english, 2010

9

PALB2 mutations in European familial pancreatic cancer families

EP Slater, P Langer, E Niemczyk, K Strauch, J Butler, N Habbe, JP Neoptolemos, W Greenhalf, DK Bartsch

Journal:

Clinical Genetics

Year:

2010

Language:

english

File:

PDF, 671 KB

english, 2010

10

Thromboembolism and coumarin overdosage in a 19-year-old female: impact of pharmacogenetics

C Brenner, B Huber, A Becker, H Ostermann, C Becker, G Steinbeck, W-M Franz

Journal:

Clinical Genetics

Year:

2010

Language:

english

File:

PDF, 544 KB

english, 2010

11

A founder mutation in BBS2 is responsible for Bardet-Biedl syndrome in the Hutterite population: utility of SNP arrays in genetically heterogeneous disorders

AM Innes, KM Boycott, EG Puffenberger, D Redl, IM MacDonald, AE Chudley, C Beaulieu, R Perrier, T Gillan, A Wade, JS Parboosingh

Journal:

Clinical Genetics

Year:

2010

Language:

english

File:

PDF, 802 KB

english, 2010

12

Identification of a novel mutation in the human PDE6A gene in autosomal recessive retinitis pigmentosa: homology with the nmf28/nmf28 mice model

M Corton, MJ Blanco, M Torres, M Sanchez-Salorio, A Carracedo, M Brion

Journal:

Clinical Genetics

Year:

2010

Language:

english

File:

PDF, 726 KB

english, 2010

13

Variable number of tandem repeat polymorphisms (VNTRs) in the ACAN gene associated with pectus excavatum

MW Stacey, SA Neumann, A Dooley, K Segna, RE Kelly, D Nuss, AM Kuhn, MJ Goretsky, AH Fecteau, A Pastor, VK Proud

Journal:

Clinical Genetics

Year:

2010

Language:

english

File:

PDF, 546 KB

english, 2010

14

Patient satisfaction and cancer-related distress among unselected Jewish women undergoing genetic testing for BRCA1 and BRCA2

KA Metcalfe, A Poll, M Llacuachaqui, S Nanda, A Tulman, N Mian, P Sun, SA Narod

Journal:

Clinical Genetics

Year:

2010

Language:

english

File:

PDF, 550 KB

english, 2010

15

DNA repair deficiency in a newly identified neurological disease

Journal:

Clinical Genetics

Year:

2010

Language:

english

File:

PDF, 542 KB

english, 2010

16

Yet another gene mutation: dysfunction in mitochondrial protein quality control causing hereditary ataxia

Journal:

Clinical Genetics

Year:

2010

Language:

english

File:

PDF, 539 KB

english, 2010

17

Nature vs nurture: genetic susceptibility and weight loss in hepatic steatosis

Journal:

Clinical Genetics

Year:

2010

Language:

english

File:

PDF, 704 KB

english, 2010

18

Erratum

Journal:

Clinical Genetics

Year:

2010

File:

PDF, 468 KB

2010

19

Leena Peltonen-Palotie (1952–2010) A renaissance woman of science

Päivi Pajukanta

Journal:

Clinical Genetics

Year:

2010

Language:

english

File:

PDF, 554 KB

english, 2010