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Volume 8; Issue 1
Main
BMC Medical Genetics
Volume 8; Issue 1
BMC Medical Genetics
Volume 8; Issue 1
1
Calpain-5 gene variants are associated with diastolic blood pressure and cholesterol levels
María E Sáez
,
María T Martínez-Larrad
,
Reposo Ramírez-Lorca
,
José L González-Sánchez
,
Carina Zabena
,
María J Martinez-Calatrava
,
Alejandro González
,
Francisco J Morón
,
Agustín Ruiz
,
Manuel Serrano-Río
Journal:
BMC Medical Genetics
Year:
2007
Language:
english
File:
PDF, 1.51 MB
Your tags:
english, 2007
2
Matrix Metalloproteinase-9 (MMP-9) polymorphisms in patients with cutaneous malignant melanoma
Javier Cotignola
,
Boris Reva
,
Nandita Mitra
,
Nicole Ishill
,
Shaokun Chuai
,
Ami Patel
,
Shivang Shah
,
Gretchen Vanderbeek
,
Daniel Coit
,
Klaus Busam
,
Allan Halpern
,
Alan Houghton
,
Chris Sander
,
Marianne
Journal:
BMC Medical Genetics
Year:
2007
Language:
english
File:
PDF, 672 KB
Your tags:
english, 2007
3
Case-control and family-based association studies of candidate genes in autistic disorder and its endophenotypes: TPH2 and GLO1
Roberto Sacco
,
Veruska Papaleo
,
Jorg Hager
,
Francis Rousseau
,
Rainald Moessner
,
Roberto Militerni
,
Carmela Bravaccio
,
Simona Trillo
,
Cindy Schneider
,
Raun Melmed
,
Maurizio Elia
,
Paolo Curatolo
,
Barbar
Journal:
BMC Medical Genetics
Year:
2007
Language:
english
File:
PDF, 551 KB
Your tags:
english, 2007
4
Association betweenCFL1gene polymorphisms and spina bifida risk in a California population
Huiping Zhu
,
James O Ebot Enaw
,
Chen Ma
,
Gary M Shaw
,
Edward J Lammer
,
Richard H Finnell
Journal:
BMC Medical Genetics
Year:
2007
Language:
english
File:
PDF, 501 KB
Your tags:
english, 2007
5
Incorporating medical interventions into carrier probability estimation for genetic counseling
Hormuzd A Katki
Journal:
BMC Medical Genetics
Year:
2007
Language:
english
File:
PDF, 650 KB
Your tags:
english, 2007
6
Analysis of meiotic recombination in 22q11.2, a region that frequently undergoes deletions and duplications
Laura Torres-Juan
,
Jordi Rosell
,
Manuel Sánchez-de-la-Torre
,
Joan Fibla
,
Damià Heine-Suñer
Journal:
BMC Medical Genetics
Year:
2007
Language:
english
File:
PDF, 2.15 MB
Your tags:
english, 2007
7
Respiratory symptoms among infants at risk for asthma: association with surfactant protein A haplotypes
Melinda M Pettigrew
,
Janneane F Gent
,
Yong Zhu
,
Elizabeth W Triche
,
Kathleen D Belanger
,
Theodore R Holford
,
Michael B Bracken
,
Brian P Leaderer
Journal:
BMC Medical Genetics
Year:
2007
Language:
english
File:
PDF, 638 KB
Your tags:
english, 2007
8
NovelAPCmutations in Czech and Slovak FAP families: clinical and genetic aspects
Jitka Stekrova
,
Martina Sulova
,
Vera Kebrdlova
,
Katerina Zidkova
,
Jaroslav Kotlas
,
Denisa Ilencikova
,
Kamila Vesela
,
Milada Kohoutova
Journal:
BMC Medical Genetics
Year:
2007
Language:
english
File:
PDF, 1009 KB
Your tags:
english, 2007
9
Genetic mapping of a new heart rate QTL on chromosome 8 of spontaneously hypertensive rats
Gustavo JJ Silva
,
Alexandre C Pereira
,
Eduardo M Krieger
,
José E Krieger
Journal:
BMC Medical Genetics
Year:
2007
Language:
english
File:
PDF, 1.15 MB
Your tags:
english, 2007
10
Ovarian dysfunction andFMR1alleles in a large Italian family with POF and FRAXA disorders: case report
Maria Giuseppina Miano
,
Carmela Laperuta
,
Pietro Chiurazzi
,
Michele D'Urso
,
Matilde Valeria Ursini
Journal:
BMC Medical Genetics
Year:
2007
Language:
english
File:
PDF, 580 KB
Your tags:
english, 2007
11
Two novel missense mutations in the myostatin gene identified in Japanese patients with Duchenne muscular dystrophy
Atsushi Nishiyama
,
Yasuhiro Takeshima
,
Kayoko Saiki
,
Akiko Narukage
,
Yoshinobu Oyazato
,
Mariko Yagi
,
Masafumi Matsuo
Journal:
BMC Medical Genetics
Year:
2007
Language:
english
File:
PDF, 1.26 MB
Your tags:
english, 2007
12
Transient trimethylaminuria related to menstruation
Makiko Shimizu
,
John R Cashman
,
Hiroshi Yamazaki
Journal:
BMC Medical Genetics
Year:
2007
Language:
english
File:
PDF, 504 KB
Your tags:
english, 2007
13
Association of TGFβ1, TNFα, CCR2 and CCR5 gene polymorphisms in type-2 diabetes and renal insufficiency among Asian Indians
Pushplata Prasad
,
Arun K Tiwari
,
KM Prasanna Kumar
,
AC Ammini
,
Arvind Gupta
,
Rajeev Gupta
,
BK Thelma
Journal:
BMC Medical Genetics
Year:
2007
Language:
english
File:
PDF, 503 KB
Your tags:
english, 2007
14
Analysis of sequence variations in the suppressor of cytokine signaling (SOCS)-3gene in extremely obese children and adolescents
Katja Hölter
,
Anne-Kathrin Wermter
,
André Scherag
,
Wolfgang Siegfried
,
Hanspeter Goldschmidt
,
Johannes Hebebrand
,
Anke Hinney
Journal:
BMC Medical Genetics
Year:
2007
Language:
english
File:
PDF, 526 KB
Your tags:
english, 2007
15
Large genomic rearrangements in theCFTRgene contribute to CBAVD
Magali Taulan
,
Anne Girardet
,
Caroline Guittard
,
Jean-Pierre Altieri
,
Carine Templin
,
Christophe Beroud
,
Marie des Georges
,
Mireille Claustres
Journal:
BMC Medical Genetics
Year:
2007
Language:
english
File:
PDF, 959 KB
Your tags:
english, 2007
16
Screening of the transcriptional regulatory regions of vascular endothelial growth factor receptor 2 (VEGFR2) in amyotrophic lateral sclerosis
Alice Brockington
,
Beatrijs Wokke
,
Hannah Nixon
,
Judith Hartley
,
Pamela J Shaw
Journal:
BMC Medical Genetics
Year:
2007
Language:
english
File:
PDF, 1.03 MB
Your tags:
english, 2007
17
Adenoviral-mediated correction of methylmalonyl-CoA mutase deficiency in murine fibroblasts and human hepatocytes
Randy J Chandler
,
Matthew S Tsai
,
Kenneth Dorko
,
Jennifer Sloan
,
Mark Korson
,
Richard Freeman
,
Stephen Strom
,
Charles P Venditti
Journal:
BMC Medical Genetics
Year:
2007
Language:
english
File:
PDF, 1.15 MB
Your tags:
english, 2007
18
MRX87 family withAristaless Xdup24bp mutation and implication for polyAlanine expansions
Carmela Laperuta
,
Letizia Spizzichino
,
Pio D'Adamo
,
Jlenia Monfregola
,
Antonio Maiorino
,
Angela D'Eustacchio
,
Valerio Ventruto
,
Giovanni Neri
,
Michele D'Urso
,
Pietro Chiurazzi
,
Matilde Valeria Ursini
,
Journal:
BMC Medical Genetics
Year:
2007
Language:
english
File:
PDF, 3.13 MB
Your tags:
english, 2007
19
A novel mutation in theWFS1gene identified in a Taiwanese family with low-frequency hearing impairment
Hsun-Tien Tsai
,
Ying-Piao Wang
,
Shing-Fang Chung
,
Hung-Ching Lin
,
Guan-Min Ho
,
Min-Tsan Shu
Journal:
BMC Medical Genetics
Year:
2007
Language:
english
File:
PDF, 1.41 MB
Your tags:
english, 2007
20
Renin-angiotensin-aldosterone system polymorphisms: a role or a hole in occurrence and long-term prognosis of acute myocardial infarction at young age
Erica Franco
,
Luigi Palumbo
,
Francesca Crobu
,
Matteo Anselmino
,
Simone Frea
,
Giuseppe Matullo
,
Alberto Piazza
,
Gian Paolo Trevi
,
Serena Bergerone
Journal:
BMC Medical Genetics
Year:
2007
Language:
english
File:
PDF, 606 KB
Your tags:
english, 2007
21
Characterization of N-acetyltransferase 1 and 2 polymorphisms and haplotype analysis for inflammatory bowel disease and sporadic colorectal carcinoma
Suhal S Mahid
,
Daniel W Colliver
,
Nigel PS Crawford
,
Benjamin D Martini
,
Mark A Doll
,
David W Hein
,
Gary A Cobbs
,
Robert E Petras
,
Susan Galandiuk
Journal:
BMC Medical Genetics
Year:
2007
Language:
english
File:
PDF, 517 KB
Your tags:
english, 2007
22
The genetic study of three population microisolates in South Tyrol (MICROS): study design and epidemiological perspectives
Cristian Pattaro
,
Fabio Marroni
,
Alice Riegler
,
Deborah Mascalzoni
,
Irene Pichler
,
Claudia B Volpato
,
Umberta Dal Cero
,
Alessandro De Grandi
,
Clemens Egger
,
Agatha Eisendle
,
Christian Fuchsberger
,
Mar
Journal:
BMC Medical Genetics
Year:
2007
Language:
english
File:
PDF, 756 KB
Your tags:
english, 2007
23
CT60 genotype does not affect CTLA-4 isoform expression despite association to T1D and AITD in northern Sweden
Sofia Mayans
,
Kurt Lackovic
,
Caroline Nyholm
,
Petter Lindgren
,
Karin Ruikka
,
Mats Eliasson
,
Corrado M Cilio
,
Dan Holmberg
Journal:
BMC Medical Genetics
Year:
2007
Language:
english
File:
PDF, 811 KB
Your tags:
english, 2007
24
The effect ofABCA1gene polymorphisms on ischaemic stroke risk and relationship with lipid profile
Alireza Pasdar
,
Ghasem Yadegarfar
,
Alastair Cumming
,
Lawrence Whalley
,
David St Clair
,
Mary-Joan MacLeod
Journal:
BMC Medical Genetics
Year:
2007
Language:
english
File:
PDF, 525 KB
Your tags:
english, 2007
25
PediDraw: A web-based tool for drawing a pedigree in genetic counseling
Min He
,
Wei Li
Journal:
BMC Medical Genetics
Year:
2007
Language:
english
File:
PDF, 493 KB
Your tags:
english, 2007
26
High occurrence ofBRCA1intragenic rearrangements in hereditary breast and ovarian cancer syndrome in the Czech Republic
Petra Vasickova
,
Eva Machackova
,
Miroslava Lukesova
,
Jiri Damborsky
,
Ondrej Horky
,
Hana Pavlu
,
Jitka Kuklova
,
Veronika Kosinova
,
Marie Navratilova
,
Lenka Foretova
Journal:
BMC Medical Genetics
Year:
2007
Language:
english
File:
PDF, 1.23 MB
Your tags:
english, 2007
27
Lack of association between the chemokine receptor 5 polymorphism CCR5delta32 in rheumatoid arthritis and juvenile idiopathic arthritis
Ewald Lindner
,
Gry BN Nordang
,
Espen Melum
,
Berit Flatø
,
Anne Marit Selvaag
,
Erik Thorsby
,
Tore K Kvien
,
Øystein T Førre
,
Benedicte A Lie
Journal:
BMC Medical Genetics
Year:
2007
Language:
english
File:
PDF, 498 KB
Your tags:
english, 2007
28
The impact of the Catechol-O-methyltransferase Val158Met polymorphism on survival in the general population – the HUNT study
Knut Hagen
,
Lars J Stovner
,
Frank Skorpen
,
Elin Pettersen
,
John-Anker Zwart
Journal:
BMC Medical Genetics
Year:
2007
Language:
english
File:
PDF, 531 KB
Your tags:
english, 2007
29
The interactive role of type 2 diabetes mellitus and E-selectin S128R mutation on susceptibility to coronary heart disease
Khaled K Abu-Amero
,
Futwan Al-Mohanna
,
Olayan M Al-Boudari
,
Gamal H Mohamed
,
Nduna Dzimiri
Journal:
BMC Medical Genetics
Year:
2007
Language:
english
File:
PDF, 501 KB
Your tags:
english, 2007
30
Cerebellar gene expression profiles of mouse models for Rett syndrome reveal novel MeCP2 targets
ChaRandle Jordan
,
Hong Hua Li
,
Helen C Kwan
,
Uta Francke
Journal:
BMC Medical Genetics
Year:
2007
Language:
english
File:
PDF, 1.58 MB
Your tags:
english, 2007
31
TCF7L2rs7903146 variant does not associate with smallness for gestational age in the French population
Stéphane Cauchi
,
David Meyre
,
Hélène Choquet
,
Samia Deghmoun
,
Emmanuelle Durand
,
Stefan Gaget
,
Cécile Lecoeur
,
Philippe Froguel
,
Claire Levy-Marchal
Journal:
BMC Medical Genetics
Year:
2007
Language:
english
File:
PDF, 501 KB
Your tags:
english, 2007
32
Mutations in the 3'-untranslated region ofGATA4as molecular hotspots for congenital heart disease (CHD)
Stella Marie Reamon-Buettner
,
Si-Hyen Cho
,
Juergen Borlak
Journal:
BMC Medical Genetics
Year:
2007
Language:
english
File:
PDF, 1.23 MB
Your tags:
english, 2007
33
Polymorphism of the FABP2 gene: a population frequency analysis and an association study with cardiovascular risk markers in Argentina
Laura C Gomez
,
Sebastián M Real
,
Marta S Ojeda
,
Sergio Gimenez
,
Luis S Mayorga
,
María Roqué
Journal:
BMC Medical Genetics
Year:
2007
Language:
english
File:
PDF, 547 KB
Your tags:
english, 2007
34
Functional analysis of splicing mutations in exon 7 ofNF1gene
Irene Bottillo
,
Alessandro De Luca
,
Annalisa Schirinzi
,
Valentina Guida
,
Isabella Torrente
,
Stefano Calvieri
,
Cristina Gervasini
,
Lidia Larizza
,
Antonio Pizzuti
,
Bruno Dallapiccola
Journal:
BMC Medical Genetics
Year:
2007
Language:
english
File:
PDF, 1.08 MB
Your tags:
english, 2007
35
Multiplex SNaPshot for detection ofBRCA1/2common mutations in Spanish and Spanish related breast/ovarian cancer families
Sandra Filippini
,
Ana Blanco
,
Ana Fernández-Marmiesse
,
Vanesa Álvarez-Iglesias
,
Clara Ruíz-Ponte
,
Ángel Carracedo
,
Ana Vega
Journal:
BMC Medical Genetics
Year:
2007
Language:
english
File:
PDF, 796 KB
Your tags:
english, 2007
36
Dominant inhibition of Fas ligand-mediated apoptosis due to a heterozygous mutation associated with autoimmune lymphoproliferative syndrome (ALPS) Type Ib
Lilia L Bi
,
George Pan
,
T Prescott Atkinson
,
Lixin Zheng
,
Janet K Dale
,
Christopher Makris
,
Vishnu Reddy
,
Jay M McDonald
,
Richard M Siegel
,
Jennifer M Puck
,
Michael J Lenardo
,
Stephen E Straus
Journal:
BMC Medical Genetics
Year:
2007
Language:
english
File:
PDF, 1.96 MB
Your tags:
english, 2007
37
Cost-utility analysis of genetic screening in families of patients with germlineMUTYHmutations
Maartje Nielsen
,
Frederik J Hes
,
Hans FA Vasen
,
Wilbert B van den Hout
Journal:
BMC Medical Genetics
Year:
2007
Language:
english
File:
PDF, 613 KB
Your tags:
english, 2007
38
Antisense-induced exon skipping for duplications in Duchenne muscular dystrophy
Annemieke Aartsma-Rus
,
Anneke AM Janson
,
Gert-Jan B van Ommen
,
Judith CT van Deutekom
Journal:
BMC Medical Genetics
Year:
2007
Language:
english
File:
PDF, 1.29 MB
Your tags:
english, 2007
39
Secretory granule neuroendocrine protein 1 (SGNE1) genetic variation and glucose intolerance in severe childhood and adult obesity
Nabila Bouatia-Naji
,
Vincent Vatin
,
Cécile Lecoeur
,
Barbara Heude
,
Christine Proença
,
Jacques Veslot
,
Béatrice Jouret
,
Jean Tichet
,
Guillaume Charpentier
,
Michel Marre
,
Beverley Balkau
,
Philippe Frogu
Journal:
BMC Medical Genetics
Year:
2007
Language:
english
File:
PDF, 701 KB
Your tags:
english, 2007
40
Effect of the 3'APOB-VNTR polymorphism on the lipid profiles in the Guangxi Hei Yi Zhuang and Han populations
Yin Ruixing
,
Chen Guangqin
,
Wang Yong
,
Lin Weixiong
,
Yang Dezhai
,
Pan Shangling
Journal:
BMC Medical Genetics
Year:
2007
Language:
english
File:
PDF, 2.33 MB
Your tags:
english, 2007
41
Mechanistic role of a disease-associated genetic variant within the ADAM33 asthma susceptibility gene
Richard G Del Mastro
,
Laura Turenne
,
Heidi Giese
,
Tim P Keith
,
Paul Van Eerdewegh
,
Klaus JW May
,
Randall D Little
Journal:
BMC Medical Genetics
Year:
2007
Language:
english
File:
PDF, 608 KB
Your tags:
english, 2007
42
ResequencingPNMTin European hypertensive and normotensive individuals: no common susceptibilily variants for hypertension and purifying selection on intron 1
Katrin Kepp
,
Peeter Juhanson
,
Viktor Kozich
,
Mai Ots
,
Margus Viigimaa
,
Maris Laan
Journal:
BMC Medical Genetics
Year:
2007
Language:
english
File:
PDF, 813 KB
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english, 2007
43
Absence of mutations inNR2E1andSNX3in five patients with MMEP (microcephaly, microphthalmia, ectrodactyly, and prognathism) and related phenotypes
Ravinesh A Kumar
,
David B Everman
,
Chad T Morgan
,
Anne Slavotinek
,
Charles E Schwartz
,
Elizabeth M Simpson
Journal:
BMC Medical Genetics
Year:
2007
Language:
english
File:
PDF, 564 KB
Your tags:
english, 2007
44
Subarachnoid hemorrhage: tests of association with apolipoprotein E and elastin genes
Ritesh Kaushal
,
Daniel Woo
,
Prodipto Pal
,
Mary Haverbusch
,
Huifeng Xi
,
Charles Moomaw
,
Padmini Sekar
,
Brett Kissela
,
Dawn Kleindorfer
,
Matthew Flaherty
,
Laura Sauerbeck
,
Ranajit Chakraborty
,
Joseph Br
Journal:
BMC Medical Genetics
Year:
2007
Language:
english
File:
PDF, 649 KB
Your tags:
english, 2007
45
Resequencing of genes for transforming growth factor β1 (TGFB1) type 1 and 2 receptors (TGFBR1,TGFBR2), and association analysis of variants with diabetic nephropathy
Amy Jayne McKnight
,
David A Savage
,
Chris C Patterson
,
Denise Sadlier
,
A Peter Maxwell
Journal:
BMC Medical Genetics
Year:
2007
Language:
english
File:
PDF, 1011 KB
Your tags:
english, 2007
46
Lack of increases in methylation at three CpG-rich genomic loci in non-mitotic adult tissues during aging
Michelle W Chu
,
Kimberly D Siegmund
,
Carrie L Eckstam
,
Jung Yeon Kim
,
Allen S Yang
,
Gary C Kanel
,
Simon Tavaré
,
Darryl Shibata
Journal:
BMC Medical Genetics
Year:
2007
Language:
english
File:
PDF, 750 KB
Your tags:
english, 2007
47
TheTCF7L2locus and type 1 diabetes
Hui-Qi Qu
,
Constantin Polychronakos
Journal:
BMC Medical Genetics
Year:
2007
Language:
english
File:
PDF, 579 KB
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english, 2007
48
A novelDSPPmutation is associated with type II dentinogenesis Imperfecta in a chinese family
Xianqin Zhang
,
Lanying Chen
,
Jingyu Liu
,
Zhen Zhao
,
Erjun Qu
,
Xiaotao Wang
,
Wei Chang
,
Chengqi Xu
,
Qing K Wang
,
Mugen Liu
Journal:
BMC Medical Genetics
Year:
2007
Language:
english
File:
PDF, 1.10 MB
Your tags:
english, 2007
49
Analysis ofKLFtranscription factor family gene variants in type 2 diabetes
Ruth Gutiérrez-Aguilar
,
Yamina Benmezroua
,
Emmanuel Vaillant
,
Beverley Balkau
,
Michel Marre
,
Guillaume Charpentier
,
Rob Sladek
,
Philippe Froguel
,
Bernadette Neve
Journal:
BMC Medical Genetics
Year:
2007
Language:
english
File:
PDF, 488 KB
Your tags:
english, 2007
50
Susceptibility to type 1 diabetes conferred by thePTPN22C1858T polymorphism in the Spanish population
Jose Luis Santiago
,
Alfonso Martínez
,
Hermenegildo de la Calle
,
Miguel Fernández-Arquero
,
M Ángeles Figueredo
,
Emilio G de la Concha
,
Elena Urcelay
Journal:
BMC Medical Genetics
Year:
2007
Language:
english
File:
PDF, 492 KB
Your tags:
english, 2007
51
PPARα L162V underlies variation in serum triglycerides and subcutaneous fat volume in young males
Julieta Uthurralt
,
Heather Gordish-Dressman
,
Meg Bradbury
,
Carolina Tesi-Rocha
,
Joseph Devaney
,
Brennan Harmon
,
Erica K Reeves
,
Cinzia Brandoli
,
Barbara C Hansen
,
Richard L Seip
,
Paul D Thompson
,
Thom
Journal:
BMC Medical Genetics
Year:
2007
Language:
english
File:
PDF, 1.25 MB
Your tags:
english, 2007
52
The D9N, N291S and S447X variants in the lipoprotein lipase (LPL) gene are not associated with Type III Hyperlipidemia
David Evans
,
Frank U Beil
Journal:
BMC Medical Genetics
Year:
2007
Language:
english
File:
PDF, 477 KB
Your tags:
english, 2007
53
Association analysis of chromosome 1 migraine candidate genes
Francesca Fernandez
,
Robert P Curtain
,
Natalie J Colson
,
Micky Ovcaric
,
John MacMillan
,
Lyn R Griffiths
Journal:
BMC Medical Genetics
Year:
2007
Language:
english
File:
PDF, 526 KB
Your tags:
english, 2007
54
Previously described sequence variant inCDK5RAP2gene in a Pakistani family with autosomal recessive primary microcephaly
Muhammad Jawad Hassan
,
Maryam Khurshid
,
Zahid Azeem
,
Peter John
,
Ghazanfar Ali
,
Muhammad Salman Chishti
,
Wasim Ahmad
Journal:
BMC Medical Genetics
Year:
2007
Language:
english
File:
PDF, 1.16 MB
Your tags:
english, 2007
55
Gene sequence variations of the platelet P2Y12 receptor are associated with coronary artery disease
Ugo Cavallari
,
Elisabetta Trabetti
,
Giovanni Malerba
,
Michele Biscuola
,
Domenico Girelli
,
Oliviero Olivieri
,
Nicola Martinelli
,
Dominick J Angiolillo
,
Roberto Corrocher
,
Pier Franco Pignatti
Journal:
BMC Medical Genetics
Year:
2007
Language:
english
File:
PDF, 492 KB
Your tags:
english, 2007
56
Effective quantitative real-time polymerase chain reaction analysis of the parkin gene (PARK2) exon 1–12 dosage
Maria I Shadrina
,
Elena V Semenova
,
Petr A Slominsky
,
Gulbahar H Bagyeva
,
Sergei N Illarioshkin
,
Irina I Ivanova-Smolenskaia
,
Svetlana A Limborska
Journal:
BMC Medical Genetics
Year:
2007
Language:
english
File:
PDF, 504 KB
Your tags:
english, 2007
57
The Fangshan/Family-based Ischemic Stroke Study In China (FISSIC) protocol
Xun Tang
,
Yonghua Hu
,
Dafang Chen
,
Siyan Zhan
,
Zongxin Zhang
,
Huidong Dou
Journal:
BMC Medical Genetics
Year:
2007
Language:
english
File:
PDF, 903 KB
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english, 2007
58
Interactions between theadducin 2gene and antihypertensive drug therapies in determining blood pressure in people with hypertension
Sharon LR Kardia
,
Yan V Sun
,
Sara C Hamon
,
Ruth Ann Barkley
,
Eric Boerwinkle
,
Stephen T Turner
Journal:
BMC Medical Genetics
Year:
2007
Language:
english
File:
PDF, 1.20 MB
Your tags:
english, 2007
59
Genetic variants of Complement factor H gene are not associated with premature coronary heart disease: a family-based study in the Irish population
Weihua Meng
,
Anne Hughes
,
Chris C Patterson
,
Christine Belton
,
Muhammad S Kamaruddin
,
Paul G Horan
,
Frank Kee
,
Pascal P McKeown
Journal:
BMC Medical Genetics
Year:
2007
Language:
english
File:
PDF, 490 KB
Your tags:
english, 2007
60
The Framingham Heart Study, on its way to becoming the gold standard for Cardiovascular Genetic Epidemiology?
Cashell E Jaquish
Journal:
BMC Medical Genetics
Year:
2007
Language:
english
File:
PDF, 446 KB
Your tags:
english, 2007
61
Metabolic phenotype of methylmalonic acidemia in mice and humans: the role of skeletal muscle
Randy J Chandler
,
Jennifer Sloan
,
Hong Fu
,
Matthew Tsai
,
Sally Stabler
,
Robert Allen
,
Klaus H Kaestner
,
Haig H Kazazian
,
Charles P Venditti
Journal:
BMC Medical Genetics
Year:
2007
Language:
english
File:
PDF, 889 KB
Your tags:
english, 2007
62
Missense mutations in Desmocollin-2 N-terminus, associated with arrhythmogenic right ventricular cardiomyopathy, affect intracellular localization of desmocollin-2 in vitro
Giorgia Beffagna
,
Marzia De Bortoli
,
Andrea Nava
,
Michela Salamon
,
Alessandra Lorenzon
,
Manuela Zaccolo
,
Luisa Mancuso
,
Luca Sigalotti
,
Barbara Bauce
,
Gianluca Occhi
,
Cristina Basso
,
Gerolamo Lanfranc
Journal:
BMC Medical Genetics
Year:
2007
Language:
english
File:
PDF, 2.62 MB
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english, 2007
63
Exploring the functional role of the CHRM2 gene in human cognition: results from a dense genotyping and brain expression study
Florencia M Gosso
,
Eco JC de Geus
,
Tinca JC Polderman
,
Dorret I Boomsma
,
Danielle Posthuma
,
Peter Heutink
Journal:
BMC Medical Genetics
Year:
2007
Language:
english
File:
PDF, 705 KB
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english, 2007
64
CADASIL in Arabs: clinical and genetic findings
Saeed Bohlega
,
Asmahan Al Shubili
,
Abdulrahman Edris
,
Abdulrahman Alreshaid
,
Thamer AlKhairallah
,
M Walid AlSous
,
Samir Farah
,
Khaled K Abu-Amero
Journal:
BMC Medical Genetics
Year:
2007
Language:
english
File:
PDF, 889 KB
Your tags:
english, 2007
65
Mutation analysis of theNSD1gene in patients with autism spectrum disorders and macrocephaly
Joseph D Buxbaum
,
Guiqing Cai
,
Gudrun Nygren
,
Pauline Chaste
,
Richard Delorme
,
Juliet Goldsmith
,
Maria Råstam
,
Jeremy M Silverman
,
Eric Hollander
,
Christopher Gillberg
,
Marion Leboyer
,
Catalina Betanc
Journal:
BMC Medical Genetics
Year:
2007
Language:
english
File:
PDF, 664 KB
Your tags:
english, 2007
66
Prevalence of H63D, S65C and C282Y hereditary hemochromatosis gene mutations in Slovenian population by an improved high-throughput genotyping assay
Marko Cukjati
,
Tomaž Vaupotič
,
Ruth Rupreht
,
Vladka Čurin-Šerbec
Journal:
BMC Medical Genetics
Year:
2007
Language:
english
File:
PDF, 1.18 MB
Your tags:
english, 2007
67
SOD2polymorphisms: unmasking the effect of polymorphism on splicing
Jing Shao
,
Lishan Chen
,
Brian Marrs
,
Lin Lee
,
Hai Huang
,
Kenneth G Manton
,
George M Martin
,
Junko Oshima
Journal:
BMC Medical Genetics
Year:
2007
Language:
english
File:
PDF, 1.97 MB
Your tags:
english, 2007
68
Single nucleotide polymorphisms in bone turnover-related genes in Koreans: ethnic differences in linkage disequilibrium and haplotype
Kyung-Seon Kim
,
Ghi-Su Kim
,
Joo-Yeon Hwang
,
Hye-Ja Lee
,
Mi-Hyun Park
,
Kwang-joong Kim
,
Jongsun Jung
,
Hyo-Soung Cha
,
Hyoung Doo Shin
,
Jong-Ho Kang
,
Eui Kyun Park
,
Tae-Ho Kim
,
Jung-Min Hong
,
Jung-Min Ko
Journal:
BMC Medical Genetics
Year:
2007
Language:
english
File:
PDF, 998 KB
Your tags:
english, 2007
69
The candidate genesTAF5L, TCF7, PDCD1,IL6andICAM1cannot be excluded from having effects in type 1 diabetes
Jason D Cooper
,
Deborah J Smyth
,
Rebecca Bailey
,
Felicity Payne
,
Kate Downes
,
Lisa M Godfrey
,
Jennifer Masters
,
Lauren R Zeitels
,
Adrian Vella
,
Neil M Walker
,
John A Todd
Journal:
BMC Medical Genetics
Year:
2007
Language:
english
File:
PDF, 324 KB
Your tags:
english, 2007
70
A comprehensive analysis of common genetic variation in prolactin (PRL) and PRL receptor (PRLR) genes in relation to plasma prolactin levels and breast cancer risk: the Multiethnic Cohort
Sulggi A Lee
,
Christopher A Haiman
,
Noel P Burtt
,
Loreall C Pooler
,
Iona Cheng
,
Laurence N Kolonel
,
Malcolm C Pike
,
David Altshuler
,
Joel N Hirschhorn
,
Brian E Henderson
,
Daniel O Stram
Journal:
BMC Medical Genetics
Year:
2007
Language:
english
File:
PDF, 1.40 MB
Your tags:
english, 2007
71
Impact of estrogen receptor gene polymorphisms and mRNA levels on obesity and lipolysis – a cohort study
Maria Nilsson
,
Ingrid Dahlman
,
Hong Jiao
,
Jan-Åke Gustafsson
,
Peter Arner
,
Karin Dahlman-Wright
Journal:
BMC Medical Genetics
Year:
2007
Language:
english
File:
PDF, 905 KB
Your tags:
english, 2007
72
Association of autism with polymorphisms in the paired-like homeodomain transcription factor 1 (PITX1) on chromosome 5q31: a candidate gene analysis
Anne Philippi
,
Frédéric Tores
,
Jérome Carayol
,
Francis Rousseau
,
Mélanie Letexier
,
Elke Roschmann
,
Pierre Lindenbaum
,
Abdel Benajjou
,
Karine Fontaine
,
Céline Vazart
,
Philippe Gesnouin
,
Peter Brooks
,
J
Journal:
BMC Medical Genetics
Year:
2007
Language:
english
File:
PDF, 933 KB
Your tags:
english, 2007
73
CD209in inflammatory bowel disease: a case-control study in the Spanish population
Concepción Núñez
,
Javier Oliver
,
Juan Luis Mendoza
,
María Gómez-García
,
Carlos Taxonera
,
Luis M Gómez
,
Miguel A López-Nevot
,
Emilio G de la Concha
,
Elena Urcelay
,
Alfonso Martínez
,
Javier Martín
Journal:
BMC Medical Genetics
Year:
2007
Language:
english
File:
PDF, 475 KB
Your tags:
english, 2007
74
The intron 4c allele of the NOS3 gene is associated with ischemic stroke in African Americans
RP Grewal
,
AVC Dutra
,
Yi C Liao
,
Ss H Juo
,
NIH Papamitsakis
Journal:
BMC Medical Genetics
Year:
2007
Language:
english
File:
PDF, 163 KB
Your tags:
english, 2007
75
No evidence for association betweentaugene haplotypic variants and susceptibility to Creutzfeldt-Jakob disease
Pascual Sánchez-Juan
,
Matthew T Bishop
,
Alison Green
,
Claudia Giannattasio
,
Alejandro Arias-Vasquez
,
Anna Poleggi
,
Richard SG Knight
,
Cornelia M van Duijn
Journal:
BMC Medical Genetics
Year:
2007
Language:
english
File:
PDF, 919 KB
Your tags:
english, 2007
76
Synpolydactyly and HOXD13 polyalanine repeat: addition of 2 alanine residues is without clinical consequences
Sajid Malik
,
KM Girisha
,
Muhammad Wajid
,
Akhilesh K Roy
,
Shubha R Phadke
,
Sayedul Haque
,
Wasim Ahmad
,
Manuela C Koch
,
Karl-Heinz Grzeschik
Journal:
BMC Medical Genetics
Year:
2007
Language:
english
File:
PDF, 1.71 MB
Your tags:
english, 2007
77
Sphingomyelin phosphodiesterase-1 (SMPD1) coding variants do not contribute to low levels of high-density lipoprotein cholesterol
Zari Dastani
,
Isabelle L Ruel
,
James C Engert
,
Jacques Genest
,
Michel Marcil
Journal:
BMC Medical Genetics
Year:
2007
Language:
english
File:
PDF, 514 KB
Your tags:
english, 2007
78
The Facioscapulohumeral muscular dystrophy region on 4qter and the homologous locus on 10qter evolved independently under different evolutionary pressure
Monica Rossi
,
Enzo Ricci
,
Luca Colantoni
,
Giuliana Galluzzi
,
Roberto Frusciante
,
Pietro A Tonali
,
Luciano Felicetti
Journal:
BMC Medical Genetics
Year:
2007
Language:
english
File:
PDF, 1.85 MB
Your tags:
english, 2007
79
Association between the -455T>C promoter polymorphism of theAPOC3gene and the metabolic syndrome in a multi-ethnic sample
Rebecca L Pollex
,
Matthew R Ban
,
T Kue Young
,
Peter Bjerregaard
,
Sonia S Anand
,
Salim Yusuf
,
Bernard Zinman
,
Stewart B Harris
,
Anthony JG Hanley
,
Philip W Connelly
,
Murray W Huff
,
Robert A Hegele
Journal:
BMC Medical Genetics
Year:
2007
Language:
english
File:
PDF, 533 KB
Your tags:
english, 2007
80
MRPS18CP2alleles andDEFA3absence as putative chromosome 8p23.1 modifiers of hearing loss due to mtDNA mutation A1555G in the 12S rRNA gene
Ester Ballana
,
Josep Maria Mercader
,
Nathan Fischel-Ghodsian
,
Xavier Estivill
Journal:
BMC Medical Genetics
Year:
2007
Language:
english
File:
PDF, 1.05 MB
Your tags:
english, 2007
81
A novel RUNX2 missense mutation predicted to disrupt DNA binding causes cleidocranial dysplasia in a large Chinese family with hyperplastic nails
Shaohua Tang
,
Qiyu Xu
,
Xueqin Xu
,
Jicheng Du
,
Xuemei Yang
,
Yusheng Jiang
,
Xiaoqin Wang
,
Nancy Speck
,
Taosheng Huang
Journal:
BMC Medical Genetics
Year:
2007
Language:
english
File:
PDF, 1.18 MB
Your tags:
english, 2007
82
Detection of subtelomere imbalance using MLPA: validation, development of an analysis protocol, and application in a diagnostic centre
Joo Wook Ahn
,
Caroline Mackie Ogilvie
,
Alysia Welch
,
Helen Thomas
,
Rajiv Madula
,
Alison Hills
,
Celia Donaghue
,
Kathy Mann
Journal:
BMC Medical Genetics
Year:
2007
Language:
english
File:
PDF, 1.01 MB
Your tags:
english, 2007
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