Volume 22; Issue 2

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Human Mutation
Volume 22; Issue 2

Human Mutation

Volume 22; Issue 2

1

Mutational analysis of the BRCA1-interacting genes ZNF350/ZBRK1 and BRIP1/BACH1 among BRCA1 and BRCA2-negative probands from breast-ovarian cancer families and among early-onset breast cancer cases and reference individuals

Joni L. Rutter, Amelia M. Smith, Michael R. Dávila, Alice J. Sigurdson, Ruthann M. Giusti, Marbin A. Pineda, Michele M. Doody, Margaret A. Tucker, Mark H. Greene, Jinghui Zhang, Jeffery P. Struewing

Journal:

Year:

2003

Language:

english

File:

PDF, 305 KB

english, 2003

2

Deficiency of UDP-GlcNAc:Dolichol Phosphate N-Acetylglucosamine-1 Phosphate Transferase (DPAGT1) Causes a Novel Congenital Disorder of Glycosylation Type Ij

Xiaohua Wu, Jeffrey S. Rush, Denise Karaoglu, Donna Krasnewich, Mark S. Lubinsky, Charles J. Waechter, Reid Gilmore, Hudson H. Freeze

Journal:

Year:

2003

Language:

english

File:

PDF, 186 KB

english, 2003

3

Mutation screening of the N-myc downstream-regulated gene 1 (NDRG1) in patients with Charcot-Marie-Tooth Disease

Michael Hunter, Rafaëlle Bernard, Elizabeth Freitas, Amandine Boyer, Bharti Morar, Ian J. Martins, Ivailo Tournev, Albena Jordanova, Velina Guergelcheva, Boryana Ishpekova, Ivo Kremensky, Garth Nichol

Journal:

Year:

2003

Language:

english

File:

PDF, 199 KB

english, 2003

4

Evaluation of multiplex capillary heteroduplex analysis: A rapid and sensitive mutation screening technique

Bethan E. Hoskins, Anita Thorn, Peter J. Scambler, Philip L. Beales

Journal:

Year:

2003

Language:

english

File:

PDF, 180 KB

english, 2003

5

Gross rearrangements in the MECP2 gene in three patients with rett syndrome: Implications for routine diagnosis of Rett syndrome

E. Schollen, E. Smeets, E. Deflem, J.P. Fryns, G. Matthijs

Journal:

Year:

2003

Language:

english

File:

PDF, 162 KB

english, 2003

6

Mutations and polymorphisms in the human methyl CpG-binding protein MECP2

Gabriel Miltenberger-Miltenyi, Franco Laccone

Journal:

Year:

2003

Language:

english

File:

PDF, 188 KB

english, 2003

7

Mitochondrial DNA variant 16189T>C is associated with susceptibility to endometrial cancer

Vincent W.S. Liu, Yue Wang, Hui-Juan Yang, Percy C.K. Tsang, Tong-Yow Ng, Ling-Chui Wong, Phillip Nagley, Hextan Y.S. Ngan

Journal:

Year:

2003

Language:

english

File:

PDF, 86 KB

english, 2003

8

A genetic and phenotypic analysis in Spanish spinal muscular atrophy patients with c.399_402del AGAG, the most frequently found subtle mutation in the SMN1 gene

Ivon Cuscó, Eva López, Carolina Soler-Botija, María Jesús Barceló, Montserrat Baiget, Eduardo F. Tizzano

Journal:

Year:

2003

Language:

english

File:

PDF, 232 KB

english, 2003

9

Digenic progressive external ophthalmoplegia in a sporadic patient: Recessive mutations in POLG and C10orf2/Twinkle

Gert Van Goethem, Ann Löfgren, Bart Dermaut, Chantal Ceuterick, Jean-Jacques Martin, Christine Van Broeckhoven

Journal:

Year:

2003

Language:

english

File:

PDF, 73 KB

english, 2003

10

Detection of single nucleotide substitution by competitive allele-specific short oligonucleotide hybridization (CASSOH) with immunochromatographic strip

Yoichi Matsubara, Shigeo Kure

Journal:

Year:

2003

Language:

english

File:

PDF, 328 KB

english, 2003

11

Detection and assignment of TP53 mutations in tumor DNA using peptide mass signature genotyping

Cheryl A. Telmer, Jiyan An, David E. Malehorn, Xuemei Zeng, Susanne M. Gollin, Chandramohan S. Ishwad, Jonathan W. Jarvik

Journal:

Year:

2003

Language:

english

File:

PDF, 153 KB

english, 2003

12

Detection of mitochondrial DNA mutations in gestational trophoblastic disease

Pui Man Chiu, Vincent W.S. Liu, Hextan Y.S. Ngan, Ui Soon Khoo, Annie N.Y. Cheung

Journal:

Year:

2003

Language:

english

File:

PDF, 188 KB

english, 2003

13

Novel intronic polymorphisms in the RET proto-oncogene and their association with Hirschsprung disease

Guido Fitze, Mandy Schierz, Eberhard Kuhlisch, Matthias Schreiber, Andreas Ziegler, Dietmar Roesner, Hans K. Schackert

Journal:

Year:

2003

Language:

english

File:

PDF, 46 KB

english, 2003

14

Founder mutation in the BRCA1 gene in Malay breast cancer patients from Singapore

Ann S.G. Lee, G.H. Ho, P.C. Oh, C. Balram, L.L. Ooi, D.T.H. Lim, C.Y. Wong, G.S. Hong

Journal:

Year:

2003

Language:

english

File:

PDF, 48 KB

english, 2003

15

Four novel mutations in APOB causing heterozygous and homozygous familial hypobetalipoproteinemia

A.J. Whitfield, A.D. Marais, K. Robertson, P.H.R. Barrett, F.M. van Bockxmeer, J.R. Burnett

Journal:

Year:

2003

Language:

english

File:

PDF, 48 KB

english, 2003

16

BRCA1 and BRCA2 mutations in breast/ovarian cancer patients from central Italy

L. Stuppia, P. Di Fulvio, G. Aceto, S. Pintor, S. Veschi, V. Gatta, A. Colosimo, E. Cianchetti, A. Cama, R. Mariani-Costantini, P. Battista, G. Palka

Journal:

Year:

2003

Language:

english

File:

PDF, 112 KB

english, 2003

17

Myocilin analysis by DHPLC in French POAG patients: Increased prevalence of Q368X mutation

Rahma Melki, Ahmed Belmouden, Antoine Brézin, Henri-Jean Garchon

Journal:

Year:

2003

Language:

english

File:

PDF, 217 KB

english, 2003

18

Neurofibromatosis eurofibromatosis type 1 (NF1): Identification of eight unreported mutations in NF1 gene in Italian patients

Paola Origone, Carlo Bellini, Debora Sambarino, Barbara Banelli, Guido Morcaldi, Carmen La Rosa, Franco Stanzial, Claudio Castellan, Domenico A. Coviello, Cecilia Garrè, Eugenio Bonioli

Journal:

Year:

2003

Language:

english

File:

PDF, 154 KB

english, 2003

19

The 342-kb deletion in GJB6 is not present in patients with non-syndromic hearing loss from Austria

Barbara Günther, Andrea Steiner, Doris Nekahm-Heis, Klaus Albegger, Patrick Zorowka, Gerd Utermann, Andreas Janecke

Journal:

Year:

2003

Language:

english

File:

PDF, 26 KB

english, 2003

20

Polymorphisms in fatty acid-binding protein-3 (FABP3) – putative association with type 2 diabetes mellitus

Hyoung Doo Shin, Lyoung Hyo Kim, Byung Lae Park, Hye Seung Jung, Young Min Cho, Min Kyong Moon, Hong Kyu Lee, Kyong Soo Park

Journal:

Year:

2003

Language:

english

File:

PDF, 55 KB

english, 2003