Candidate Locus for a Nuclear Modifier Gene for Maternally Inherited Deafness  Yelena Bykhovskaya, Xavier Estivill, Kent Taylor, Tieu Hang, Melanie Hamon,

Slides:



Advertisements
Similar presentations
Nuclear and Mitochondrial DNA Analysis of a 2,000-Year-Old Necropolis in the Egyin Gol Valley of Mongolia Christine Keyser-Tracqui, Eric Crubézy, Bertrand.
Advertisements

Previous Estimates of Mitochondrial DNA Mutation Level Variance Did Not Account for Sampling Error: Comparing the mtDNA Genetic Bottleneck in Mice and.
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.
Genomewide Comparison of DNA Sequences between Humans and Chimpanzees Ingo Ebersberger, Dirk Metzler, Carsten Schwarz, Svante Pääbo The American Journal.
The Duty to Recontact: Attitudes of Genetics Service Providers Jennifer L. Fitzpatrick, Cecil Hahn, Teresa Costa, Marlene J. Huggins The American Journal.
Peopling of Sahul: mtDNA Variation in Aboriginal Australian and Papua New Guinean Populations Alan J. Redd, Mark Stoneking The American Journal of Human.
The Trimmed-Haplotype Test for Linkage Disequilibrium
Anna Middleton, J. Hewison, R.F. Mueller 
The Gene for Glycogen-Storage Disease Type 1b Maps to Chromosome 11q23
Identification of a Major Susceptibility Locus for Restless Legs Syndrome on Chromosome 12q  Alex Desautels, Gustavo Turecki, Jacques Montplaisir, Adolfo.
Transmission/Disequilibrium Tests for Extended Marker Haplotypes
Homozygosity Mapping in Families with Joubert Syndrome Identifies a Locus on Chromosome 9q34.3 and Evidence for Genetic Heterogeneity  Kathrin Saar, Lihadh.
Anna Middleton, J. Hewison, R.F. Mueller 
Genetic Linkage of Paget Disease of the Bone to Chromosome 18q
Meiotic Segregation Analysis of RB1 Alleles in Retinoblastoma Pedigrees by Use of Single-Sperm Typing  Anne Girardet, Mary Sara McPeek, Esther P. Leeflang,
Autosomal Recessive Nonsyndromic Neurosensory Deafness at DFNB1 Not Associated with the Compound-Heterozygous GJB2 (Connexin 26) Genotype M34T/167delT 
Frances Busfield, David L. Duffy, Janine B. Kesting, Shelley M
Long-Range LD Can Confound Genome Scans in Admixed Populations
The Origin of Abnormalities in Recurrent Aneuploidy/Polyploidy
The Gene for Glycogen-Storage Disease Type 1b Maps to Chromosome 11q23
Genetics, Individuality, and Medicine in the 21st Century*
Tamara Rogers, David Chandler, Dora Angelicheva, P. K
Use of Closely Related Affected Individuals for the Genetic Study of Complex Diseases in Founder Populations  C. Bourgain, E. Génin, P. Holopainen, K.
Quiz Page November 2008 American Journal of Kidney Diseases
The Gene for Severe Combined Immunodeficiency Disease in Athabascan-Speaking Native Americans Is Located on Chromosome 10p  Lanying Li, Dennis Drayna,
An Immune Defect Causing Dominant Chronic Mucocutaneous Candidiasis and Thyroid Disease Maps to Chromosome 2p in a Single Family  T. Prescott Atkinson,
A Gene for Arthrogryposis Multiplex Congenita Neuropathic Type Is Linked to D5S394 on Chromosome 5qter  Mordechai Shohat, Rona Lotan, Nurit Magal, Tamar.
Fragile-X Carrier Screening and the Prevalence of Premutation and Full-Mutation Carriers in Israel  Hagit Toledano-Alhadef, Lina Basel-Vanagaite, Nurit.
Laurent Gouya  Journal of Investigative Dermatology 
Fine Mapping of the Split-Hand/Split-Foot Locus (SHFM3) at 10q24: Evidence for Anticipation and Segregation Distortion  Rýdvan S. Özen, Bora E. Baysal,
Howard B. Yeon, Noralane M. Lindor, J.G. Seidman, Christine E. Seidman 
Tristan F. W. McMullan, Andrew R. Collins, Anthony G. Tyers, David O
Per M. Knappskog, Jacek Majewski, Avi Livneh, Per Torgeir E
Familial Juvenile Hyperuricemic Nephropathy: Localization of the Gene on Chromosome 16p11.2—and Evidence for Genetic Heterogeneity  Blanka Stibůrková,
A Gene for Familial Juvenile Polyposis Maps to Chromosome 18q21.1
Refinement of the Locus for Autosomal Recessive Retinitis Pigmentosa (RP25) Linked to Chromosome 6q in a Family of Pakistani Origin  Shagufta Khaliq,
A Locus for Hereditary Sensory Neuropathy with Cough and Gastroesophageal Reflux on Chromosome 3p22-p24  C. Kok, M.L. Kennerson, P.J. Spring, A.J. Ing,
Mapping of Charcot-Marie-Tooth Disease Type 1C to Chromosome 16p Identifies a Novel Locus for Demyelinating Neuropathies  Valerie A. Street, Jeff D. Goldy,
A Whole-Genome Scan and Fine-Mapping Linkage Study of Auditory-Visual Synesthesia Reveals Evidence of Linkage to Chromosomes 2q24, 5q33, 6p12, and 12p12 
A Recurrent Expansion of a Maternal Allele with 36 CAG Repeats Causes Huntington Disease in Two Sisters  Franco Laccone, Wilhelm Christian  The American.
Claus Skaanning Jensen, Augustine Kong 
Family-Based Tests of Association in the Presence of Linkage
Erratum The American Journal of Human Genetics
Shwachman-Diamond Syndrome with Exocrine Pancreatic Dysfunction and Bone Marrow Failure Maps to the Centromeric Region of Chromosome 7  Sharan Goobie,
Genetic Linkage of Autosomal-Dominant Alport Syndrome with Leukocyte Inclusions and Macrothrombocytopenia (Fechtner Syndrome) to Chromosome 22q11-13 
Benjamin A. Rybicki, Robert C. Elston 
John A. Martignetti, Karen E
A Severely Affected Male Born into a Rett Syndrome Kindred Supports X-Linked Inheritance and Allows Extension of the Exclusion Map  Carolyn Schanen, Uta.
Volume 69, Issue 12, Pages (June 2006)
Evidence That the Penetrance of Mutations at the RP11 Locus Causing Dominant Retinitis Pigmentosa Is Influenced by a Gene Linked to the Homologous RP11.
Dominique J. Verlaan, Adrian M. Siegel, Guy A. Rouleau 
674. Molecular, Biochemical and Biomechanical Analysis of Articular Cartilage Repaired with Genetically Modified Chondrocytes Expressing Insulin-Like.
Benjamin A. Rybicki, José L. Walewski, Mary J
Linkage Analysis in a Large Brazilian Family with van der Woude Syndrome Suggests the Existence of a Susceptibility Locus for Cleft Palate at 17p  
6-n-Propylthiouracil: A Genetic Marker for Taste, with Implications for Food Preference and Dietary Habits  Beverly J. Tepper  The American Journal of.
A New Locus for Autosomal Recessive Hypercholesterolemia Maps to Human Chromosome 15q25-q26  Milco Ciccarese, Adolfo Pacifico, Giancarlo Tonolo, Paolo.
Missense Mutation in Pseudouridine Synthase 1 (PUS1) Causes Mitochondrial Myopathy and Sideroblastic Anemia (MLASA)  Yelena Bykhovskaya, Kari Casas, Emebet.
A Gene for an Autosomal Dominant Scleroatrophic Syndrome Predisposing to Skin Cancer (Huriez Syndrome) Maps to Chromosome 4q23  Young-Ae Lee, Howard P.
Identification of a New Candidate Locus for Uric Acid Nephrolithiasis
Kazuhito Sugimura, Kent D
Simone Sanna-Cherchi, Gianluca Caridi, Patricia L
Familial Progressive Sensorineural Deafness Is Mainly Due to the mtDNA A1555G Mutation and Is Enhanced by Treatment with Aminoglycosides  Xavier Estivill,
Alice S. Whittemore, Jerry Halpern 
Anna Middleton, J. Hewison, R.F. Mueller 
Minimum-Recombinant Haplotyping in Pedigrees
A Locus for Autosomal Dominant Hereditary Spastic Ataxia, SAX1,Maps to Chromosome 12p13  I.A. Meijer, C.K. Hand, K.K. Grewal, M.G. Stefanelli, E.J. Ives,
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,
Genomewide Comparison of DNA Sequences between Humans and Chimpanzees
Presentation transcript:

Candidate Locus for a Nuclear Modifier Gene for Maternally Inherited Deafness  Yelena Bykhovskaya, Xavier Estivill, Kent Taylor, Tieu Hang, Melanie Hamon, Rosaria A.M.S. Casano, Huiying Yang, Jerome I. Rotter, Mordechai Shohat, Nathan Fischel-Ghodsian  The American Journal of Human Genetics  Volume 66, Issue 6, Pages 1905-1910 (June 2000) DOI: 10.1086/302914 Copyright © 2000 The American Society of Human Genetics Terms and Conditions

Figure 1 Pedigree structures of eight Spanish families. Hearing-impaired individuals are indicated by blackened symbols. Asterisks (*) indicate individuals from whom DNA samples were obtained. Blackened symbols with white centers denote individuals who became deaf after aminoglycoside exposure. The American Journal of Human Genetics 2000 66, 1905-1910DOI: (10.1086/302914) Copyright © 2000 The American Society of Human Genetics Terms and Conditions

Figure 2 Pedigree structures of two Italian families. Hearing-impaired individuals are indicated by blackened symbols. Asterisks (*) indicate individuals from whom DNA samples were obtained. Blackened symbols with white centers denote individuals who became deaf after aminoglycoside exposure. The American Journal of Human Genetics 2000 66, 1905-1910DOI: (10.1086/302914) Copyright © 2000 The American Society of Human Genetics Terms and Conditions