Genetic Heterogeneity in Italian Families with IgA Nephropathy: Suggestive Linkage for Two Novel IgA Nephropathy Loci  Luigi Bisceglia, Giuseppina Cerullo,

Slides:



Advertisements
Similar presentations
Genetic Mapping to 10q23.3-q24.2, in a Large Italian Pedigree, of a New Syndrome Showing Bilateral Cataracts, Gastroesophageal Reflux, and Spastic Paraparesis.
Advertisements

Novel PMS2 Pseudogenes Can Conceal Recessive Mutations Causing a Distinctive Childhood Cancer Syndrome Michel De Vos, Bruce E. Hayward, Susan Picton, Eamonn.
The Novel Genetic Disorder Microhydranencephaly Maps to Chromosome 16p  
Connexin Mutations in Skin Disease and Hearing Loss David P. Kelsell, Wei-Li Di, Mark J. Houseman The American Journal of Human Genetics Volume 68, Issue.
Functional Analysis of the Neurofibromatosis Type 2 Protein by Means of Disease- Causing Point Mutations Renee P. Stokowski, David R. Cox The American.
Gene Preference in Maple Syrup Urine Disease Mary M. Nellis, Dean J. Danner The American Journal of Human Genetics Volume 68, Issue 1, Pages (January.
Epidemiology of end-stage renal disease: International comparisons of renal replacement therapy Francesco Paolo Schena Kidney International Volume 57,
PRIMUS: Rapid Reconstruction of Pedigrees from Genome-wide Estimates of Identity by Descent Jeffrey Staples, Dandi Qiao, Michael H. Cho, Edwin K. Silverman,
The Trimmed-Haplotype Test for Linkage Disequilibrium
A New Locus for Autosomal Recessive Hereditary Spastic Paraplegia Maps to Chromosome 16q24.3  Giuseppe De Michele, Maurizio De Fusco, Francesca Cavalcanti,
Mapping of a Locus for a Familial Autosomal Recessive Idiopathic Myoclonic Epilepsy of Infancy to Chromosome 16p13  Federico Zara, Elena Gennaro, Mariano.
Genetic Mapping to 10q23.3-q24.2, in a Large Italian Pedigree, of a New Syndrome Showing Bilateral Cataracts, Gastroesophageal Reflux, and Spastic Paraparesis.
Transmission/Disequilibrium Tests for Extended Marker Haplotypes
A Novel Primary Immunodeficiency with Specific Natural-Killer Cell Deficiency Maps to the Centromeric Region of Chromosome 8  Céline Eidenschenk, Jean.
Homozygosity Mapping in Families with Joubert Syndrome Identifies a Locus on Chromosome 9q34.3 and Evidence for Genetic Heterogeneity  Kathrin Saar, Lihadh.
MYO6, the Human Homologue of the Gene Responsible for Deafness in Snell’s Waltzer Mice, Is Mutated in Autosomal Dominant Nonsyndromic Hearing Loss  Salvatore.
Genetic Linkage of Paget Disease of the Bone to Chromosome 18q
Genetic Linkage of the Muckle-Wells Syndrome to Chromosome 1q44
The Importance of Genealogy in Determining Genetic Associations with Complex Traits  Dina L. Newman, Mark Abney, Mary Sara McPeek, Carole Ober, Nancy J.
A Second Locus for Familial Generalized Epilepsy with Febrile Seizures Plus Maps to Chromosome 2q21-q33  Stéphanie Baulac, Isabelle Gourfinkel-An, Fabienne.
Splitting Schizophrenia: Periodic Catatonia–Susceptibility Locus on Chromosome 15q15  Gerald Stöber, Kathrin Saar, Franz Rüschendorf, Jobst Meyer, Gudrun.
A Major Susceptibility Locus Influencing Plasma Triglyceride Concentrations Is Located on Chromosome 15q in Mexican Americans  Ravindranath Duggirala,
An Autosomal Dominant Thrombocytopenia Gene Maps to Chromosomal Region 10p  Anna Savoia, Maria Del Vecchio, Antonio Totaro, Silverio Perrotta, Giovanni.
The Origin of Abnormalities in Recurrent Aneuploidy/Polyploidy
Accounting for Linkage in Family-Based Tests of Association with Missing Parental Genotypes  Eden R. Martin, Meredyth P. Bass, Elizabeth R. Hauser, Norman.
Ren-Hua Chung, Richard W. Morris, Li Zhang, Yi-Ju Li, Eden R. Martin 
Linkage Thresholds for Two-stage Genome Scans
A Combined Linkage-Physical Map of the Human Genome
Use of Closely Related Affected Individuals for the Genetic Study of Complex Diseases in Founder Populations  C. Bourgain, E. Génin, P. Holopainen, K.
The Gene for Severe Combined Immunodeficiency Disease in Athabascan-Speaking Native Americans Is Located on Chromosome 10p  Lanying Li, Dennis Drayna,
The American Journal of Human Genetics 
Attention-Deficit/Hyperactivity Disorder in a Population Isolate: Linkage to Loci at 4q13.2, 5q33.3, 11q22, and 17p11  Mauricio Arcos-Burgos, F. Xavier.
Evidence for a Nonallelic Heterogeneity of Epidermodysplasia Verruciformis with Two Susceptibility Loci Mapped to Chromosome Regions 2p21–p24 and 17q25 
A Second Gene for Autosomal Dominant Möbius Syndrome Is Localized to Chromosome 10q, in a Dutch Family  H.T.F.M. Verzijl, B. van den Helm, B. Veldman,
Further evidence for linkage of autosomal-dominant medullary cystic kidney disease on chromosome 1q21  Mari Auranen, Sirpa Ala-Mello, Joni A. Turunen,
Tristan F. W. McMullan, Andrew R. Collins, Anthony G. Tyers, David O
Familial Juvenile Hyperuricemic Nephropathy: Localization of the Gene on Chromosome 16p11.2—and Evidence for Genetic Heterogeneity  Blanka Stibůrková,
Hal M. Hoffman, Fred A. Wright, David H. Broide, Alan A
Mapping of a Locus for a Familial Autosomal Recessive Idiopathic Myoclonic Epilepsy of Infancy to Chromosome 16p13  Federico Zara, Elena Gennaro, Mariano.
A Syndrome of Severe Mental Retardation, Spasticity, and Tapetoretinal Degeneration Linked to Chromosome 15q24  S.J. Mitchell, D.P. McHale, D.A. Campbell,
E. Warwick Daw, Simon C. Heath, Ellen M. Wijsman 
Frank Eitner, Jürgen Floege  Kidney International 
Family-Based Tests of Association in the Presence of Linkage
Erratum The American Journal of Human Genetics
Genetic Linkage of Hereditary Gingival Fibromatosis to Chromosome 2p21
Two New Loci for Autosomal Recessive Ichthyosis on Chromosomes 3p21 and 19p12- q12 and Evidence for Further Genetic Heterogeneity  Judith Fischer, Alexandra.
Benjamin A. Rybicki, Robert C. Elston 
A New Essential Hypertension Susceptibility Locus on Chromosome 2p24-p25, Detected by Genomewide Search  Andrea Angius, Enrico Petretto, Giovanni Battista.
Long Homozygous Chromosomal Segments in Reference Families from the Centre d'Étude du Polymorphisme Humain  Karl W. Broman, James L. Weber  The American.
Familial clustering of IgA nephropathy: Further evidence in an Italian population  Francesco Scolari, MD, Antonio Amoroso, MD, Silvana Savoldi, MD, Gina.
Evidence That the Penetrance of Mutations at the RP11 Locus Causing Dominant Retinitis Pigmentosa Is Influenced by a Gene Linked to the Homologous RP11.
Society for Investigative Dermatology 2010 Meeting Minutes
Reviewer Acknowledgment
Volume 62, Issue 3, Pages (September 2002)
A New Locus for Autosomal Recessive Hypercholesterolemia Maps to Human Chromosome 15q25-q26  Milco Ciccarese, Adolfo Pacifico, Giancarlo Tonolo, Paolo.
CDKN2A: The IVS2-105A/G Intronic Mutation Found in an Italian Patient Affected by Eight Primary Melanomas  Silvia Majore, Caterina Catricalà, Francesco.
Psoriasis Genetics: The Way Forward
Identification of a New Candidate Locus for Uric Acid Nephrolithiasis
Simone Sanna-Cherchi, Gianluca Caridi, Patricia L
A New Familial Amyotrophic Lateral Sclerosis Locus on Chromosome 16q12
Volume 60, Issue 2, Pages (August 2001)
Alice S. Whittemore, Jerry Halpern 
Kathleen A. Daly, W. Mark Brown, Fernando Segade, Donald W
Homozygosity Mapping in Families with Joubert Syndrome Identifies a Locus on Chromosome 9q34.3 and Evidence for Genetic Heterogeneity  Kathrin Saar, Lihadh.
Quiz page December 2003 American Journal of Kidney Diseases
Sanjay Shete, Xiaojun Zhou, Christopher I. Amos 
Zuoheng Wang, Mary Sara McPeek  The American Journal of Human Genetics 
Minimum-Recombinant Haplotyping in Pedigrees
Gonçalo R. Abecasis, Janis E. Wigginton 
Mapping of a New SGBS Locus to Chromosome Xp22 in a Family with a Severe Form of Simpson-Golabi-Behmel Syndrome  L.M. Brzustowicz, S. Farrell, M.B. Khan,
Presentation transcript:

Genetic Heterogeneity in Italian Families with IgA Nephropathy: Suggestive Linkage for Two Novel IgA Nephropathy Loci  Luigi Bisceglia, Giuseppina Cerullo, Paola Forabosco, Diletta Domenica Torres, Francesco Scolari, Michele Di Perna, Marina Foramitti, Antonio Amoroso, Sara Bertok, Jürgen Floege, Peter Rene Mertens, Klaus Zerres, Efstathios Alexopoulos, Dimitrios Kirmizis, Mazzucco Ermelinda, Leopoldo Zelante, Francesco Paolo Schena  The American Journal of Human Genetics  Volume 79, Issue 6, Pages 1130-1134 (December 2006) DOI: 10.1086/510135 Copyright © 2006 The American Society of Human Genetics Terms and Conditions

Figure 1 Summary of the first-stage linkage results of multipoint linkage analysis of the data set of 16 multiplex Italian families with IgAN. ch = Chromosome. The American Journal of Human Genetics 2006 79, 1130-1134DOI: (10.1086/510135) Copyright © 2006 The American Society of Human Genetics Terms and Conditions

Figure 2 Pedigrees of the families 1-4, 1-15, 2-18, 1-344, and 1-385, with genotypes and reconstructed haplotypes. The American Journal of Human Genetics 2006 79, 1130-1134DOI: (10.1086/510135) Copyright © 2006 The American Society of Human Genetics Terms and Conditions