An Autosomal Dominant Thrombocytopenia Gene Maps to Chromosomal Region 10p  Anna Savoia, Maria Del Vecchio, Antonio Totaro, Silverio Perrotta, Giovanni.

Slides:



Advertisements
Similar presentations
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.
Advertisements

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,
The Gene for Glycogen-Storage Disease Type 1b Maps to Chromosome 11q23
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.
Genetic Heterogeneity of Congenital Dyserythropoietic Anemia Type II
Exclusion of Three Candidate Genes as Determinants of Congenital Dyserythropoietic Anemia Type II (CDA-II)‏ by Achille Iolascon, Emanuele Miraglia del.
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
Genetic Linkage of Paget Disease of the Bone to Chromosome 18q
Genetic Heterogeneity in Italian Families with IgA Nephropathy: Suggestive Linkage for Two Novel IgA Nephropathy Loci  Luigi Bisceglia, Giuseppina Cerullo,
A Second Locus for Familial Generalized Epilepsy with Febrile Seizures Plus Maps to Chromosome 2q21-q33  Stéphanie Baulac, Isabelle Gourfinkel-An, Fabienne.
Use of Homozygosity Mapping to Identify a Region on Chromosome 1 Bearing a Defective Gene That Causes Autosomal Recessive Homozygous Hypercholesterolemia.
C. M. van Duijn, M. C. J. Dekker, V. Bonifati, R. J. Galjaard, J. J
A Combined Linkage-Physical Map of the Human Genome
The Gene for Glycogen-Storage Disease Type 1b Maps to Chromosome 11q23
The Novel Genetic Disorder Microhydranencephaly Maps to Chromosome 16p  
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.
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 
Lan Xiong, Malgorzata Labuda, Dong-Sheng Li, Thomas J
Evidence for a Nonallelic Heterogeneity of Epidermodysplasia Verruciformis with Two Susceptibility Loci Mapped to Chromosome Regions 2p21–p24 and 17q25 
Jessica Yingling, Kazuhito Toyo-oka, Anthony Wynshaw-Boris 
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,
A Gene for Arthrogryposis Multiplex Congenita Neuropathic Type Is Linked to D5S394 on Chromosome 5qter  Mordechai Shohat, Rona Lotan, Nurit Magal, Tamar.
Howard B. Yeon, Noralane M. Lindor, J.G. Seidman, Christine E. Seidman 
John D. Rioux, Valerie A. Stone, Mark J
Further evidence for linkage of autosomal-dominant medullary cystic kidney disease on chromosome 1q21  Mari Auranen, Sirpa Ala-Mello, Joni A. Turunen,
Mutations in the 5′ UTR of ANKRD26, the Ankirin Repeat Domain 26 Gene, Cause an Autosomal-Dominant Form of Inherited Thrombocytopenia, THC2  Tommaso Pippucci,
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,
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,
The Gene for Naegeli–Franceschetti–Jadassohn Syndrome Maps to 17q21
Airong Li, Sonia Davila, Laszlo Furu, Qi Qian, Xin Tian, Patrick S
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,
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.
Mapping of Charcot-Marie-Tooth Disease Type 1C to Chromosome 16p Identifies a Novel Locus for Demyelinating Neuropathies  Valerie A. Street, Jeff D. Goldy,
Localization of a Gene for Duane Retraction Syndrome to Chromosome 2q31  Binoy Appukuttan, Elizabeth Gillanders, Suh-Hang Juo, Diana Freas-Lutz, Sandra.
Koji Suzuki, Tania Bustos, Richard A. Spritz 
Erratum The American Journal of Human Genetics
Genetic Linkage of Autosomal-Dominant Alport Syndrome with Leukocyte Inclusions and Macrothrombocytopenia (Fechtner Syndrome) to Chromosome 22q11-13 
Two New Loci for Autosomal Recessive Ichthyosis on Chromosomes 3p21 and 19p12- q12 and Evidence for Further Genetic Heterogeneity  Judith Fischer, Alexandra.
Homozygosity and Linkage-Disequilibrium Mapping of the Syndrome of Congenital Hypoparathyroidism, Growth and Mental Retardation, and Dysmorphism to a.
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.
Long Homozygous Chromosomal Segments in Reference Families from the Centre d'Étude du Polymorphisme Humain  Karl W. Broman, James L. Weber  The American.
Evidence That the Penetrance of Mutations at the RP11 Locus Causing Dominant Retinitis Pigmentosa Is Influenced by a Gene Linked to the Homologous RP11.
The Fanconi Anemia Group E Gene, FANCE, Maps to Chromosome 6p
Linkage Analysis in a Large Brazilian Family with van der Woude Syndrome Suggests the Existence of a Susceptibility Locus for Cleft Palate at 17p  
Hereditary Isolated Renal Magnesium Loss Maps to Chromosome 11q23
Familial Nontoxic Multinodular Thyroid Goiter Locus Maps to Chromosome 14q but Does Not Account for Familial Nonmedullary Thyroid Cancer  Graham R. Bignell,
A Second Recombination Hotspot Associated with SHOX Deletions
Constitutional Mutations of the hSNF5/INI1 Gene Predispose to a Variety of Cancers  Nicolas Sévenet, Eammon Sheridan, Daniel Amram, Pascale Schneider,
A New Locus for Autosomal Recessive Hypercholesterolemia Maps to Human Chromosome 15q25-q26  Milco Ciccarese, Adolfo Pacifico, Giancarlo Tonolo, Paolo.
Identification, by Homozygosity Mapping, of a Novel Locus for Autosomal Recessive Congenital Ichthyosis on Chromosome 17p, and Evidence for Further Genetic.
Psoriasis Genetics: The Way Forward
A Gene for an Autosomal Dominant Scleroatrophic Syndrome Predisposing to Skin Cancer (Huriez Syndrome) Maps to Chromosome 4q23  Young-Ae Lee, Howard P.
Birt-Hogg-Dubé Syndrome, a Genodermatosis Associated with Spontaneous Pneumothorax and Kidney Neoplasia, Maps to Chromosome 17p11.2  Laura S. Schmidt,
Lafora Progressive Myoclonus Epilepsy: Narrowing the Chromosome 6q24 Locus by Recombinations and Homozygosities  Jesus Sainz, Berge A. Minassian, Jose.
A New Familial Amyotrophic Lateral Sclerosis Locus on Chromosome 16q12
Sanjay Shete, Xiaojun Zhou, Christopher I. Amos 
A Chromosomal Deletion Map of Human Malformations
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,
Gonçalo R. Abecasis, Janis E. Wigginton 
B. Yuan, R. Neuman, S. H. Duan, J. L. Weber, P. Y. Kwok, N. L
Autosomal Recessive Cerebellar Ataxia with Oculomotor Apraxia (Ataxia- Telangiectasia–Like Syndrome) Is Linked to Chromosome 9q34  Andrea H. Németh, Elena.
Presentation transcript:

An Autosomal Dominant Thrombocytopenia Gene Maps to Chromosomal Region 10p  Anna Savoia, Maria Del Vecchio, Antonio Totaro, Silverio Perrotta, Giovanni Amendola, Arcangela Moretti, Leopoldo Zelante, Achille Iolascon  The American Journal of Human Genetics  Volume 65, Issue 5, Pages 1401-1405 (November 1999) DOI: 10.1086/302637 Copyright © 1999 The American Society of Human Genetics Terms and Conditions

Figure 1 Family pedigree with haplotype reconstruction for informative markers on 10p11.2-12. The at-risk haplotype is boxed. The American Journal of Human Genetics 1999 65, 1401-1405DOI: (10.1086/302637) Copyright © 1999 The American Society of Human Genetics Terms and Conditions

Figure 2 Schematic representation of a partial linkage map of 12 microsatellite markers located on 10p11.2-12. The mapping order and genetic distances (in cM) were obtained from the Whitehead Institute/MIT Genome Sequencing Project. The boldface segment denotes the linked interval determined by haplotype analysis. The American Journal of Human Genetics 1999 65, 1401-1405DOI: (10.1086/302637) Copyright © 1999 The American Society of Human Genetics Terms and Conditions

Feedback: Privacy Policy Feedback
Do Not Sell My Personal Information
About project: SlidePlayer Terms of Service

© 2025 SlidePlayer.com. Inc. All rights reserved.