Differential contributions of rare and common, coding and noncoding Ret mutations to multifactorial Hirschsprung disease liability.

[1]  Marc A. Levitt,et al.  Hirschsprung Disease , 2009, Current Treatment Options in Pediatrics.

[2]  M. Hurles,et al.  Copy number variation in human health, disease, and evolution. , 2009, Annual review of genomics and human genetics.

[3]  F. Collins,et al.  Potential etiologic and functional implications of genome-wide association loci for human diseases and traits , 2009, Proceedings of the National Academy of Sciences.

[4]  A. Chakravarti,et al.  Interaction between a chromosome 10 RET enhancer and chromosome 21 in the Down syndrome–Hirschsprung disease association , 2009, Human mutation.

[5]  M. Daly,et al.  Genetic Mapping in Human Disease , 2008, Science.

[6]  B. J. Klevering,et al.  Basal laminar drusen caused by compound heterozygous variants in the CFH gene. , 2008, American journal of human genetics.

[7]  Matthew J Simpson,et al.  Cell proliferation drives neural crest cell invasion of the intestine. , 2007, Developmental biology.

[8]  Aravinda Chakravarti,et al.  Evaluation of the RET regulatory landscape reveals the biological relevance of a HSCR-implicated enhancer. , 2005, Human molecular genetics.

[9]  A. Sidow,et al.  Phenotype-genotype correlation in Hirschsprung disease is illuminated by comparative analysis of the RET protein sequence. , 2005, Proceedings of the National Academy of Sciences of the United States of America.

[10]  E. Grice,et al.  A common sex-dependent mutation in a RET enhancer underlies Hirschsprung disease risk , 2005, Nature.

[11]  R. Ravazzolo,et al.  A common haplotype at the 5′ end of the RET proto‐oncogene, overrepresented in Hirschsprung patients, is associated with reduced gene expression , 2005, Human mutation.

[12]  P. Sham,et al.  TTF-1 and RET promoter SNPs: regulation of RET transcription in Hirschsprung's disease. , 2005, Human molecular genetics.

[13]  You-Qiang Song,et al.  Chinese patients with sporadic Hirschsprung’s disease are predominantly represented by a single RET haplotype , 2003, Journal of medical genetics.

[14]  S. Amladi,et al.  Online Mendelian Inheritance in Man 'OMIM'. , 2003, Indian journal of dermatology, venereology and leprology.

[15]  J. Epstein,et al.  Sox10 and Pax3 physically interact to mediate activation of a conserved c-RET enhancer. , 2003, Human molecular genetics.

[16]  Aravinda Chakravarti,et al.  Phenotype variation in two-locus mouse models of Hirschsprung disease: Tissue-specific interaction between Ret and Ednrb , 2003, Proceedings of the National Academy of Sciences of the United States of America.

[17]  Misha Angrist,et al.  Segregation at three loci explains familial and population risk in Hirschsprung disease , 2002, Nature Genetics.

[18]  A Chakravarti,et al.  Hirschsprung disease, associated syndromes and genetics: a review , 2001, Journal of Medical Genetics.

[19]  J. Pritchard.  Are rare variants responsible for susceptibility to complex diseases? , 2001, American journal of human genetics.

[20]  P. Donnelly,et al.  A new statistical method for haplotype reconstruction from population data. , 2001, American journal of human genetics.

[21]  C. Scriver,et al.  The Metabolic and Molecular Bases of Inherited Disease, 8th Edition 2001 , 2001, Journal of Inherited Metabolic Disease.

[22]  J. Epstein,et al.  Pax3 is required for enteric ganglia formation and functions with Sox10 to modulate expression of c-ret. , 2000, The Journal of clinical investigation.

[23]  M. Wegner,et al.  The glial transcription factor Sox10 binds to DNA both as monomer and dimer with different functional consequences. , 2000, Nucleic acids research.

[24]  M. Wegner,et al.  Protein Zero Gene Expression Is Regulated by the Glial Transcription Factor Sox10 , 2000, Molecular and Cellular Biology.

[25]  Gonçalo R. Abecasis,et al.  GOLD-Graphical Overview of Linkage Disequilibrium , 2000, Bioinform..

[26]  H. Schackert,et al.  Association of RET protooncogene codon 45 polymorphism with Hirschsprung disease. , 1999, American journal of human genetics.

[27]  S. Borrego,et al.  Specific polymorphisms in the RETproto-oncogene are over-represented in patients with Hirschsprung disease and may represent loci modifying phenotypic expression , 1999, Journal of medical genetics.

[28]  V. Harley,et al.  The DNA-binding specificity of SOX9 and other SOX proteins. , 1999, Nucleic acids research.

[29]  E. Lander.  The New Genomics: Global Views of Biology , 1996, Science.

[30]  Y. Kanai,et al.  Identification of two Sox17 messenger RNA isoforms, with and without the high mobility group box region, and their differential expression in mouse spermatogenesis , 1996, The Journal of cell biology.

[31]  M. Borrello,et al.  Loss of function effect of RET mutations causing Hirschsprung disease , 1995, Nature Genetics.

[32]  P. Goodfellow,et al.  Definition of a consensus DNA binding site for SRY. , 1994, Nucleic acids research.

[33]  Frank Costantini,et al.  Defects in the kidney and enteric nervous system of mice lacking the tyrosine kinase receptor Ret , 1994, Nature.

[34]  B. Ponder,et al.  Mutations of the RET proto-oncogene in Hirschsprung's disease , 1994, Nature.

[35]  B. Pasini,et al.  Point mutations affecting the tyrosine kinase domain of the RET proto-oncogene in Hirschsprung's disease , 1994, Nature.

[36]  W. Ewens,et al.  Transmission test for linkage disequilibrium: the insulin gene region and insulin-dependent diabetes mellitus (IDDM). , 1993, American journal of human genetics.

[37]  A. Ashworth,et al.  An SRY‐related gene expressed during spermatogenesis in the mouse encodes a sequence‐specific DNA‐binding protein. , 1992, The EMBO journal.

[38]  A. Chakravarti,et al.  A genetic study of Hirschsprung disease. , 1990, American journal of human genetics.

[39]  A. Knudson.  Mutation and cancer: statistical study of retinoblastoma. , 1971, Proceedings of the National Academy of Sciences of the United States of America.

[40]  M. Bodian,et al.  A family study of Hirschsprung's disease , 1963 .

[41]  N. Asai,et al.  Ultraviolet light induces redox reaction-mediated dimerization and superactivation of oncogenic Ret tyrosine kinases. , 2000, Molecular biology of the cell.

[42]  A. Covone,et al.  Deleted and normal chromosome 10 homologs from a patient with Hirschsprung disease isolated in two cell hybrids through enrichment by immunomagnetic selection. , 1993, Cytogenetics and cell genetics.

[43]  C. Carter.  Genetics of common disorders. , 1969, British medical bulletin.

[44]  J. Sutter.  American Society of Human Genetics. - The American Journal of Human Genetics , 1950 .

[45]  H. Muller,et al.  The Genetic Basis of Truncate Wing,-an Inconstant and Modifiable Character in Drosophila. , 1920, Genetics.

[46]  R. Fisher.  XV.—The Correlation between Relatives on the Supposition of Mendelian Inheritance. , 1919, Transactions of the Royal Society of Edinburgh.

[47]  L. Penrose,et al.  THE CORRELATION BETWEEN RELATIVES ON THE SUPPOSITION OF MENDELIAN INHERITANCE , 2022 .