Idiopathic Congenital Central Hypoventilation Syndrome: Evaluation of Brain-Derived Neurotrophic Factor Genomic DNA Sequence Variation.

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Weese-Mayer DE, Bolk S, Silvestri JM, Chakravarti A: Idiopathic Congenital Central Hypoventilation Syndrome: Evaluation of Brain-Derived Neurotrophic Factor Genomic DNA Sequence Variation. Am J Med Genet 107:306-310, 2002. PMID 11840487.

A human model for multigenic inheritance: phenotypic expression in Hirschsprung disease requires both the RET gene and a new 9q31 locus.

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Bolk S, Pelet A, Hofstra R, Angrist M, Salomon R, Croaker D, Buys C, Lyonnet S, Chakravarti A: A human model for multigenic inheritance: phenotypic expression in Hirschsprung disease requires both the RET gene and a new 9q31 locus. P Natl Acad Sci USA 97:268-273, 2000. PMID 10618407. PMC26652.

The Sox10(Dom) mouse: modeling the genetic variation of Waardenburg-Shah (WS4) syndrome.

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Southard-Smith E, Angrist M, Ellison J, Agarwala R, Baxevanis A, Chakravarti A, Pavan W: The Sox10(Dom) mouse: modeling the genetic variation of Waardenburg-Shah (WS4) syndrome. Genome Res 9: 215-225, 1999. PMID 10077527.

Genomic structure of the gene for the SH2 and pleckstrin homology domain-containing protein GRB10 and evaluation of its role in Hirschsprung disease.

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Angrist M, Bolk S, Bentley K, Nallasamy S, Halushka M, Chakravarti A: Genomic structure of the gene for the SH2 and pleckstrin homology domain-containing protein GRB10  and evaluation of its role in Hirschsprung disease. Oncogene 17:3065-3070, 1998. PMID 9881709.

Cloning, mapping, genomic structure and evaluation as a candidate gene for Hirschsprung disease susceptibility.

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Angrist M, Jing S, Bolk St, Bentley K, Nallasamy S, Halushka M, Fox G, Chakravarti A: Human GFRA1: Cloning, mapping, genomic structure and evaluation as a candidate gene for Hirschsprung disease susceptibility. Genomics 48: 354-362, 1998.  PMID 9545641.

Germline mutations in glial cell line-derived neurotrophic factor (GDNF) and RET in a Hirschsprung disease patient.

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Angrist M, Bolk S, Halushka M, Lapchak P, and Chakravarti A: Germline mutations in glial cell line-derived neurotrophic factor (GDNF) and RET in a Hirschsprung disease patient. Nat Genet 14: 341-344, 1996. PMID 8896568.

Endothelin-3 (EDN3) mutation in a patient with Congenital Central Hypoventilation Syndrome.

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Bolk S, Xie J, Angrist M, Silvestri JM, Weese-Mayer DE, Yanagisawa M, Chakravarti A: Endothelin-3 (EDN3) mutation in a patient with Congenital Central Hypoventilation Syndrome. Nat Genet 13:395-396, 1996. PMID 8696331.

A homozygous mutation in the human endothelin-3 gene associated with a combined Waardenburg type 2 and Hirschsprung phenotype.

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Hofstra RMW, Osinga J, Tan-Sindhunata G, Wu y, Kamsteeg EJ, Stulp RP, van Ravenswaaji-Arts C, Majoor-Krakauer D, Angrist M, Chakravarti A, Meijers C, Buys CHM: A homozygous mutation in the human endothelin-3 gene associated with a combined Waardenburg type 2 and Hirschsprung phenotype. Nat Genet 12:445-447, 1996. PMID 8630503.

Congenital central hypoventilation syndrome: mutation analysis of the receptor tyrosine kinase RET.

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Bolk S, Angrist M, Schwartz S, Silvestri JM, Weese-Mayer DE, Chakravarti A: Congenital central hypoventilation syndrome: mutation analysis of the receptor tyrosine kinase RET.  Am J Med Genet 63:603-609, 1996. PMID 8826440.

Endothelin receptor-mediated signaling in Hirschsprung disease.

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Chakravarti A: Endothelin receptor-mediated signaling in Hirschsprung disease. Hum Mol Genet 5:303-307, 1996. PMID 8852653.