Volume 72; Issue 5

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Clinical Genetics
Volume 72; Issue 5

Clinical Genetics

Volume 72; Issue 5

1

Prenatal diagnosis of Miller-Dieker syndrome by ultrasound and molecular cytogenetic analysis

Elisabetta Lenzini, Giuseppina D’Ottavio, Angelo Città, Daniela Gambel Benussi, Vincenzo Petix, Vanna Pecile

Journal:

Clinical Genetics

Year:

2007

Language:

english

File:

PDF, 177 KB

english, 2007

2

Genetics of Noonan syndrome – a new gene, and the search is still on

Journal:

Clinical Genetics

Year:

2007

Language:

english

File:

PDF, 113 KB

english, 2007

3

GFAP mutations and polymorphisms in 13 unrelated Italian patients affected by Alexander disease

F Caroli, R Biancheri, M Seri, A Rossi, A Pessagno, M Bugiani, F Corsolini, S Savasta, S Romano, C Antonelli, A Romano, D Pareyson, P Gambero, G Uziel, R Ravazzolo, I Ceccherini, M Filocamo

Journal:

Clinical Genetics

Year:

2007

Language:

english

File:

PDF, 170 KB

english, 2007

4

The homozygous deletion of the 3′ enhancer of the SHOX gene causes Langer mesomelic dysplasia

R Bertorelli, L Capone, F Ambrosetti, L Garavelli, L Varriale, V Mazza, I Stanghellini, A Percesepe, A Forabosco

Journal:

Clinical Genetics

Year:

2007

Language:

english

File:

PDF, 126 KB

english, 2007

5

Cytogenetically invisible microdeletions involving PITX2 in Rieger syndrome

E Engenheiro, J Saraiva, I Carreira, L Ramos, HH Ropers, E Silva, N Tommerup, Z Tümer

Journal:

Clinical Genetics

Year:

2007

Language:

english

File:

PDF, 352 KB

english, 2007

6

A disease causing deletion of 29 base pairs in intron 15 in the MKS1 gene is highly associated with the campomelic variant of the Meckel–Gruber syndrome

B Auber, P Burfeind, S Herold, K Schoner, G Simson, R Rauskolb, H Rehder

Journal:

Clinical Genetics

Year:

2007

Language:

english

File:

PDF, 241 KB

english, 2007

7

Formalin-fixed paraffin-embedded clinical tissues show spurious copy number changes in array-CGH profiles

EA Mc Sherry, A Mc Goldrick, EW Kay, AM Hopkins, WM Gallagher, PA Dervan

Journal:

Clinical Genetics

Year:

2007

Language:

english

File:

PDF, 413 KB

english, 2007

8

DMPK-associated myotonic dystrophy and CTG repeats in Alabama African Americans

RT Acton, CA Rivers, B Watson, SJ Oh

Journal:

Clinical Genetics

Year:

2007

Language:

english

File:

PDF, 104 KB

english, 2007

9

Crouzon with acanthosis nigricans. Further delineation of the syndrome

L Arnaud-López, R Fragoso, J Mantilla-Capacho, P Barros-Núñez

Journal:

Clinical Genetics

Year:

2007

Language:

english

File:

PDF, 190 KB

english, 2007

10

Cytogenetic and molecular characterization of the derivative Y chromosome: a case study of an azoospermic patient

T Roovere, M Peters, N Horelli-Kuitunen, T Mölter-Väär, M Punab, S Rootsi, O Poolamets, A Salumets

Journal:

Clinical Genetics

Year:

2007

Language:

english

File:

PDF, 186 KB

english, 2007

11

Novel VCP mutations in inclusion body myopathy associated with Paget disease of bone and frontotemporal dementia

GDJ Watts, D Thomasova, SK Ramdeen, EC Fulchiero, SG Mehta, DA Drachman, CC Weihl, Z Jamrozik, H Kwiecinski, A Kaminska, VE Kimonis

Journal:

Clinical Genetics

Year:

2007

Language:

english

File:

PDF, 471 KB

english, 2007

12

A novel DFNA5 mutation, IVS8+4 A>G, in the splice donor site of intron 8 causes late-onset non-syndromic hearing loss in a Chinese family

J Cheng, DY Han, P Dai, HJ Sun, R Tao, Q Sun, D Yan, W Qin, HY Wang, XM Ouyang, SZ Yang, JY Cao, GY Feng, LL Du, YZ Zhang, SQ Zhai, WY Yang, XZ Liu, L He, HJ Yuan

Journal:

Clinical Genetics

Year:

2007

Language:

english

File:

PDF, 496 KB

english, 2007

13

The role of common genetic risk variants in Parkinson disease

Journal:

Clinical Genetics

Year:

2007

Language:

english

File:

PDF, 108 KB

english, 2007

14

TBX22 mutations are a frequent cause of non-syndromic cleft palate in the Thai population

K Suphapeetiporn, S Tongkobpetch, P Siriwan, V Shotelersuk

Journal:

Clinical Genetics

Year:

2007

Language:

english

File:

PDF, 301 KB

english, 2007

15

Colorectal cancer survivors undergoing genetic testing for hereditary non-polyposis colorectal cancer: motivational factors and psychosocial functioning

MJ Esplen, L Madlensky, M Aronson, H Rothenmund, S Gallinger, K Butler, B Toner, J Wong, M Manno, J McLaughlin

Journal:

Clinical Genetics

Year:

2007

Language:

english

File:

PDF, 172 KB

english, 2007

16

Pallister–Killian syndrome: tetrasomy of 12pter→12p11.22 in a boy with an analphoid, inverted duplicated marker chromosome

X-L Huang, M Isabel de Michelena, E Leon, TA Maher, R McClure, A Milunsky

Journal:

Clinical Genetics

Year:

2007

Language:

english

File:

PDF, 363 KB

english, 2007

17

Characterization of de novo microdeletions involving 17q11.2q12 identified through chromosomal comparative genomic hybridization

N Brunetti-Pierri, DK Grange, Z Ou, DA Peiffer, SKG Peacock, ML Cooper, PA Eng, SR Lalani, AC Chinault, KL Gunderson, WJ Craigen, S-W Cheung

Journal:

Clinical Genetics

Year:

2007

Language:

english

File:

PDF, 612 KB

english, 2007

18

Parkin polymorphisms: risk for Parkinson’s disease in Indian population

Biswas, A, Maulik, M, Das, SK, Ray, K, Ray, J

Journal:

Clinical Genetics

Year:

2007

Language:

english

File:

PDF, 281 KB

english, 2007

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