Volume 22; Issue 5

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Human Mutation
Volume 22; Issue 5

Human Mutation

Volume 22; Issue 5

1

Mutations of ZFPM2/FOG2 gene in sporadic cases of tetralogy of Fallot

Antonio Pizzuti, Anna Sarkozy, Anthea L. Newton, Emanuela Conti, Elisabetta Flex, Maria Cristina Digilio, Francesca Amati, Debora Gianni, Caterina Tandoi, Bruno Marino, Merlin Crossley, Bruno Dallapic

Journal:

Année:

2003

Langue:

english

Fichier:

PDF, 177 KB

english, 2003

2

Genotyping microarray (gene chip) for the ABCR (ABCA4) gene

K. Jaakson, J. Zernant, M. Külm, A. Hutchinson, N. Tonisson, D. Glavač, M. Ravnik-Glavač, M. Hawlina, M.R. Meltzer, R.C. Caruso, F. Testa, A. Maugeri, C.B. Hoyng, P. Gouras, F. Simonelli, R.A. Lewis,

Journal:

Année:

2003

Langue:

english

Fichier:

PDF, 221 KB

english, 2003

3

Molecular pathology of NEU1 gene in sialidosis

Volkan Seyrantepe, Helena Poupetova, Roseline Froissart, Marie-Thérèse Zabot, Irène Maire, Alexey V. Pshezhetsky

Journal:

Année:

2003

Langue:

english

Fichier:

PDF, 402 KB

english, 2003

4

Tau (MAPT) mutation Arg406Trp presenting clinically with Alzheimer disease does not share a common founder in Western Europe

R. Rademakers, B. Dermaut, K. Peeters, M. Cruts, P. Heutink, A. Goate, C. Van Broeckhoven

Journal:

Année:

2003

Langue:

english

Fichier:

PDF, 97 KB

english, 2003

5

Fifty microdeletions among 112 cases of Sotos syndrome: Low copy repeats possibly mediate the common deletion

Naohiro Kurotaki, Naoki Harada, Osamu Shimokawa, Noriko Miyake, Hiroshi Kawame, Kimiaki Uetake, Yoshio Makita, Tatsuro Kondoh, Tsutomu Ogata, Tomoko Hasegawa, Toshiro Nagai, Takao Ozaki, Mayumi Touyam

Journal:

Année:

2003

Langue:

english

Fichier:

PDF, 363 KB

english, 2003

6

High throughput detection of microsatellite instability by denaturing high-performance liquid chromatography

Kai-feng Pan, Wanguo Liu, You-Yong Lu, Lian Zhang, Zhen-pu Li, Wan-Li Lu, Stephen N. Thibodeau, Wei-Cheng You

Journal:

Année:

2003

Langue:

english

Fichier:

PDF, 235 KB

english, 2003

7

The RET C620S mutation causes multiple endocrine neoplasia type 2A (MEN2A) but not Hirschsprung disease (HSCR) in a family cosegregating both phenotypes

Raquel M. Fernández, Guillermo Antiñolo, Charis Eng, Salud Borrego

Journal:

Année:

2003

Langue:

english

Fichier:

PDF, 105 KB

english, 2003

8

DNA deamination enables direct PCR amplification of the cystatin B (CSTB) gene-associated dodecamer repeat expansion in myoclonus epilepsy type Unverricht-Lundborg

Andreas Weinhaeusel, Michael A. Morris, Stylianos E. Antonarakis, Oskar A. Haas

Journal:

Année:

2003

Langue:

english

Fichier:

PDF, 181 KB

english, 2003

9

Glucokinase (GCK) mutations in hyper- and hypoglycemia: Maturity-onset diabetes of the young, permanent neonatal diabetes, and hyperinsulinemia of infancy

Journal:

Année:

2003

Langue:

english

Fichier:

PDF, 173 KB

english, 2003

10

The molecular basis of glutamate formiminotransferase deficiency

John F. Hilton, Karen E. Christensen, David Watkins, Benjamin A. Raby, Yannick Renaud, Susanna de la Luna, Xavier Estivill, Robert E. MacKenzie, Thomas J. Hudson, David S. Rosenblatt

Journal:

Année:

2003

Langue:

english

Fichier:

PDF, 58 KB

english, 2003

11

Genetic variation in a haplotype block spanning IDE influences Alzheimer disease

Jonathan A. Prince, Lars Feuk, Harvest F. Gu, Boo Johansson, Margaret Gatz, Kaj Blennow, Anthony J. Brookes

Journal:

Année:

2003

Langue:

english

Fichier:

PDF, 186 KB

english, 2003

12

Identification of 21 novel glucokinase (GCK) mutations in UK and European Caucasians with maturity-onset diabetes of the young (MODY)

K.L. Thomson, A.L. Gloyn, K. Colclough, M. Batten, L.I.S. Allen, F. Beards, A.T. Hattersley, S. Ellard

Journal:

Année:

2003

Langue:

english

Fichier:

PDF, 32 KB

english, 2003

13

Identification of twelve novel mutations in patients with classic and variant forms of maple syrup urine disease

Marco Henneke, Nadine Flaschker, Christoph Helbling, Martina Müller, Peter Schadewaldt, Jutta Gärtner, Udo Wendel

Journal:

Année:

2003

Langue:

english

Fichier:

PDF, 39 KB

english, 2003

14

Mutational analysis of BRCA1 and BRCA2 in Mediterranean Spanish women with early-onset breast cancer: Identification of three novel pathogenic mutations

J.I. Martínez-Ferrandis, A. Vega, I. Chirivella, P. Marín-García, A. Insa, A. Lluch, A. Carracedo, F.J. Chaves, J. García-Conde, A. Cervantes, M.-E. Armengod

Journal:

Année:

2003

Langue:

english

Fichier:

PDF, 32 KB

english, 2003

15

Ten novel mutations in VMD2 associated with Best macular dystrophy (BMD)

Franziska Krämer, Nicole Mohr, Ulrich Kellner, Günther Rudolph, Bernhard H.F. Weber

Journal:

Année:

2003

Langue:

english

Fichier:

PDF, 364 KB

english, 2003

16

Identification of nine novel arylsulfatase a (ARSA) gene mutations in patients with metachromatic leukodystrophy (MLD)

Barry Eng, Lisa N. Nakamura, Natasha O'Reilly, Natasha Schokman, Magorzata M.J. Nowaczyk, William Krivit, John S. Waye

Journal:

Année:

2003

Langue:

english

Fichier:

PDF, 27 KB

english, 2003

17

Deletion mapping in Alport syndrome and Alport syndrome-diffuse leiomyomatosis reveals potential mechanisms of visceral smooth muscle overgrowth

Beth K. Thielen, David F. Barker, Raoul D. Nelson, Jing Zhou, Stefan M. Kren, Yoav Segal

Journal:

Année:

2003

Langue:

english

Fichier:

PDF, 199 KB

english, 2003

18

Novel MLH1 mutations and a novel MSH2 polymorphism identified by SSCP and DHPLC in Portuguese HNPCC families

G. Isidro, S. Matos, V. Gonçalves, C. Cavaleiro, O. Antunes, C. Marinho, J. Soares, M.G. Boavida

Journal:

Année:

2003

Langue:

english

Fichier:

PDF, 31 KB

english, 2003

19

Constitutional NF1 mutations in neurofibromatosis 1 patients with malignant peripheral nerve sheath tumors

Lan Kluwe, Reinhard E. Friedrich, Matthias Peiper, Jan Friedman, Victor-F. Mautner

Journal:

Année:

2003

Langue:

english

Fichier:

PDF, 32 KB

english, 2003

20

BUB1 infrequently mutated in human breast carcinomas

Anita Langerød, Maria Strømberg, Koei Chin, Vessela N. Kristensen, Anne-Lise Børresen-Dale

Journal:

Année:

2003

Langue:

english

Fichier:

PDF, 25 KB

english, 2003

21

Identification of a frequent variant in ALG6, the cause of Congenital Disorder of Glycosylation-Ic

Vibeke Westphal, Ming Xiao, Pui-Yan Kwok, Hudson H. Freeze

Journal:

Année:

2003

Langue:

english

Fichier:

PDF, 59 KB

english, 2003