Volume 5; Issue 1

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BMC Medical Genetics
Volume 5; Issue 1

BMC Medical Genetics

Volume 5; Issue 1

1

A case of familial isolated hemihyperplasia

Heidi A Heilstedt, Carlos A Bacino

Journal:

BMC Medical Genetics

Year:

2004

Language:

english

File:

PDF, 719 KB

english, 2004

2

A case of autism with an interstitial deletion on 4q leading to hemizygosity for genes encoding for glutamine and glycine neurotransmitter receptor sub-units (AMPA 2,GLRA3,GLRB) and neuropeptide receptorsNPY1R,NPY5R

Subhadra Ramanathan, Abigail Woodroffe, Pamela L Flodman, Lee Z Mays, Mona Hanouni, Charlotte B Modahl, Robin Steinberg-Epstein, Maureen E Bocian, M Anne Spence, Moyra Smith

Journal:

BMC Medical Genetics

Year:

2004

Language:

english

File:

PDF, 534 KB

english, 2004

3

Correction: Patients affected with Fabry disease have an increased incidence of progressive hearing loss and sudden deafness: an investigation of twenty-two hemizygous male patients

Dominique P Germain, Paul Avan, Augustin Chassaing, Pierre Bonfils

Journal:

BMC Medical Genetics

Year:

2004

Language:

english

File:

PDF, 396 KB

english, 2004

4

Examination ofNRCAM,LRRN3, KIAA0716, andLAMB1as autism candidate genes

Holli B Hutcheson, Lana M Olson, Yuki Bradford, Susan E Folstein, Susan L Santangelo, James S Sutcliffe, Jonathan L Haines

Journal:

BMC Medical Genetics

Year:

2004

Language:

english

File:

PDF, 1.04 MB

english, 2004

5

Elevated white cell count in acute coronary syndromes: relationship to variants in inflammatory and thrombotic genes

Connie E Byrne, Anthony Fitzgerald, Christopher P Cannon, Desmond J Fitzgerald, Denis C Shields

Journal:

BMC Medical Genetics

Year:

2004

Language:

english

File:

PDF, 2.00 MB

english, 2004

6

TP73allelic expression in human brain and allele frequencies in Alzheimer's disease

Quanyi Li, Eleni S Athan, Michelle Wei, Eric Yuan, Samuel L Rice, Jean-Paul Vonsattel, Richard P Mayeux, Benjamin Tycko

Journal:

BMC Medical Genetics

Year:

2004

Language:

english

File:

PDF, 592 KB

english, 2004

7

Analysis of polymorphicTGFB1codons 10, 25, and 263 in a German patient group with non-syndromic cleft lip, alveolus, and palate compared with healthy adults

Christian Stoll, Senait Mengsteab, Doris Stoll, Dieter Riediger, Axel M Gressner, Ralf Weiskirchen

Journal:

BMC Medical Genetics

Year:

2004

Language:

english

File:

PDF, 1.07 MB

english, 2004

8

HNPCC: Six new pathogenic mutations

Erdmute Kunstmann, Judith Vieland, Frank E Brasch, Stephan A Hahn, Joerg T Epplen, Karsten Schulmann, Wolff Schmiegel

Journal:

BMC Medical Genetics

Year:

2004

Language:

english

File:

PDF, 1.95 MB

english, 2004

9

Phenotypic and molecular assessment of seven patients with 6p25 deletion syndrome: Relevance to ocular dysgenesis and hearing impairment

Douglas B Gould, Mohamad S Jaafar, Mark K Addison, Francis Munier, Robert Ritch, Ian M MacDonald, Michael A Walter

Journal:

BMC Medical Genetics

Year:

2004

Language:

english

File:

PDF, 1.01 MB

english, 2004

10

The impact of population heterogeneity on risk estimation in genetic counseling

Wenlei Liu, Nikolina Icitovic, Michele L Shaffer, Gary A Chase

Journal:

BMC Medical Genetics

Year:

2004

Language:

english

File:

PDF, 479 KB

english, 2004

11

Are p.I148T, p.R74W and p.D1270N cystic fibrosis causing mutations ?

Mireille Claustres, Jean-Pierre Altiéri, Caroline Guittard, Carine Templin, Françoise Chevalier-Porst, Marie Des Georges

Journal:

BMC Medical Genetics

Year:

2004

Language:

english

File:

PDF, 504 KB

english, 2004

12

Novel andde novo PKD1mutations identified by multiple restriction fragment-single strand conformation polymorphism (MRF-SSCP)

Wanna Thongnoppakhun, Chanin Limwongse, Kriengsak Vareesangthip, Chintana Sirinavin, Duangkamon Bunditworapoom, Nanyawan Rungroj, Pa-thai Yenchitsomanus

Journal:

BMC Medical Genetics

Year:

2004

Language:

english

File:

PDF, 1.25 MB

english, 2004

13

Candidate high myopia loci on chromosomes 18p and 12q do not play a major role in susceptibility to common myopia

Grace Ibay, Betty Doan, Lauren Reider, Debra Dana, Melissa Schlifka, Heping Hu, Taura Holmes, Jennifer O'Neill, Robert Owens, Elise Ciner, Joan E Bailey–Wilson, Dwight Stambolian

Journal:

BMC Medical Genetics

Year:

2004

Language:

english

File:

PDF, 560 KB

english, 2004

14

A 4q35.2 subtelomeric deletion identified in a screen of patients with co-morbid psychiatric illness and mental retardation

Ben S Pickard, Edward J Hollox, M Pat Malloy, David J Porteous, Douglas HR Blackwood, John AL Armour, Walter J Muir

Journal:

BMC Medical Genetics

Year:

2004

Language:

english

File:

PDF, 654 KB

english, 2004

15

TM4SF10 gene sequencing in XLMR patients identifies common polymorphisms but no disease-associated mutation

Christiane Christophe-Hobertus, Frank Kooy, Jozef Gecz, Marc J Abramowicz, Elke Holinski-Feder, Charles Schwartz, Daniel Christophe

Journal:

BMC Medical Genetics

Year:

2004

Language:

english

File:

PDF, 506 KB

english, 2004

16

What is the impact of the ACE gene insertion/deletion (I/D) polymorphism on the clinical effectiveness and adverse events of ACE inhibitors? – Protocol of a systematic review

M Scharplatz, MA Puhan, J Steurer, LM Bachmann

Journal:

BMC Medical Genetics

Year:

2004

Language:

english

File:

PDF, 517 KB

english, 2004

17

Characterization of a new full lengthTMPRSS3isoform and identification of mutant alleles responsible for nonsyndromic recessive deafness in Newfoundland and Pakistan

Zubair M Ahmed, Xiaoyan Cindy Li, Shontell D Powell, Saima Riazuddin, Terry-Lynn Young, Khushnooda Ramzan, Zahoor Ahmad, Sandra Luscombe, Kiran Dhillon, Linda MacLaren, Barbara Ploplis, Lawrence I Sho

Journal:

BMC Medical Genetics

Year:

2004

Language:

english

File:

PDF, 1.28 MB

english, 2004

18

HLA haplotypes associated with hemochromatosis mutations in the Spanish population

Arantza Pacho, Esther Mancebo, Manuel J del Rey, Maria J Castro, Desamparados Oliver, Miguel García-Berciano, Luis González, Pablo Morales

Journal:

BMC Medical Genetics

Year:

2004

Language:

english

File:

PDF, 501 KB

english, 2004

19

CLC-2 single nucleotide polymorphisms (SNPs) as potential modifiers of cystic fibrosis disease severity

Carol J Blaisdell, Timothy D Howard, Augustus Stern, Penelope Bamford, Eugene R Bleecker, O Colin Stine

Journal:

BMC Medical Genetics

Year:

2004

Language:

english

File:

PDF, 627 KB

english, 2004

20

Neural network analysis in pharmacogenetics of mood disorders

Alessandro Serretti, Enrico Smeraldi

Journal:

BMC Medical Genetics

Year:

2004

Language:

english

File:

PDF, 605 KB

english, 2004

21

Men's values-based factors on prostate cancer risk genetic testing: A telephone survey

David J Doukas, Yuelin Li

Journal:

BMC Medical Genetics

Year:

2004

Language:

english

File:

PDF, 513 KB

english, 2004

22

Allele frequencies of hemojuvelin gene (HJV) I222N and G320V missense mutations in white and African American subjects from the general Alabama population

James C Barton, Charles A Rivers, Sandrine Niyongere, Sean B Bohannon, Ronald T Acton

Journal:

BMC Medical Genetics

Year:

2004

Language:

english

File:

PDF, 499 KB

english, 2004

23

A study of the average effect of the 3'APOB-VNTR polymorphism on lipidemic parameters could explain why the short alleles (

Sabrina Garasto, Maurizio Berardelli, Francesco DeRango, Vincenzo Mari, Emidio Feraco, Giovanna De Benedictis

Journal:

BMC Medical Genetics

Year:

2004

Language:

english

File:

PDF, 497 KB

english, 2004

24

Catechol-O-Methyltransferase (COMT) Val108/158Metpolymorphism does not modulate executive function in children with ADHD

Evan Taerk, Natalie Grizenko, Leila Ben Amor, Philippe Lageix, Valentin Mbekou, Rosherie Deguzman, Adam Torkaman-Zehi, Marina Ter Stepanian, Chantal Baron, Ridha Joober

Journal:

BMC Medical Genetics

Year:

2004

Language:

english

File:

PDF, 578 KB

english, 2004

25

Amyloidosis in familial Mediterranean fever patients: correlation withMEFVgenotype andSAA1andMICApolymorphisms effects

Myrna Medlej-Hashim, Valérie Delague, Eliane Chouery, Nabiha Salem, Mohammed Rawashdeh, Gérard Lefranc, Jacques Loiselet, André Mégarbané

Journal:

BMC Medical Genetics

Year:

2004

Language:

english

File:

PDF, 495 KB

english, 2004

26

Molecular epidemiology of DFNB1 deafness in France

Anne-Françoise Roux, Nathalie Pallares-Ruiz, Anne Vielle, Valérie Faugère, Carine Templin, Dorothée Leprevost, Françoise Artières, Geneviève Lina, Nicolas Molinari, Patricia Blanchet, Michel Mondain,

Journal:

BMC Medical Genetics

Year:

2004

Language:

english

File:

PDF, 579 KB

english, 2004

27

NATgene polymorphisms and susceptibility to Alzheimer's disease: identification of a novelNAT1allelic variant

Nichola Johnson, Peter Bell, Vesna Jonovska, Marc Budge, Edith Sim

Journal:

BMC Medical Genetics

Year:

2004

Language:

english

File:

PDF, 673 KB

english, 2004

28

Glutathione S-Transferase Ω 1 variation does not influence age at onset of Huntington's disease

Larissa Arning, Peter Jagiello, Stefan Wieczorek, Carsten Saft, Jürgen Andrich, Jörg T Epplen

Journal:

BMC Medical Genetics

Year:

2004

Language:

english

File:

PDF, 480 KB

english, 2004

29

Molecular analysis using DHPLC of cystic fibrosis: increase of the mutation detection rate among the affected population in Central Italy

Maria Rosaria D'Apice, Stefano Gambardella, Mario Bengala, Silvia Russo, Anna Maria Nardone, Vincenzina Lucidi, Federica Sangiuolo, Giuseppe Novelli

Journal:

BMC Medical Genetics

Year:

2004

Language:

english

File:

PDF, 688 KB

english, 2004

30

PAX6 gene variations associated with aniridia in south India

Guruswamy Neethirajan, Subbaiah Ramasamy Krishnadas, Perumalsamy Vijayalakshmi, Shetty Shashikant, Periasamy Sundaresan

Journal:

BMC Medical Genetics

Year:

2004

Language:

english

File:

PDF, 1.47 MB

english, 2004