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GA Bellus

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Peter R Baker; Anne Chun-Hui Tsai; Michelle Springer; Karen Swisshelm; Jennifer March; Kathleen Brown; GA Bellus
Male with mosaicism for supernumerary ring X chromosome: analysis of phenotype and characterization of genotype using array comparative genome hybridization.
J L Reichel; William L Weston; GA Bellus; Joseph G Morelli
What syndrome is this? Ehlers-Danlos syndrome.
GA Bellus; Elaine B Spector; P W Speiser; Christine A. Weaver; A T Garber; C R Bryke; J Israel; S S Rosengren; MK Webster; Daniel J Donoghue; Clair A Francomano
Distinct missense mutations of the FGFR3 lys650 codon modulate receptor kinase activation and the severity of the skeletal dysplasia phenotype.

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2010: Peter R Baker; Anne Chun-Hui Tsai; Michelle Springer; Karen Swisshelm; Jennifer March; Kathleen Brown; GA Bellus
Male with mosaicism for supernumerary ring X chromosome: analysis of phenotype and characterization of genotype using array comparative genome hybridization.
The Journal of craniofacial surgery 2010;21(5):1369-75.
2001: J L Reichel; William L Weston; GA Bellus; Joseph G Morelli
What syndrome is this? Ehlers-Danlos syndrome.
Pediatric dermatology 2001;18(2):156-8.
2000: GA Bellus; Elaine B Spector; P W Speiser; Christine A. Weaver; A T Garber; C R Bryke; J Israel; S S Rosengren; MK Webster; Daniel J Donoghue; Clair A Francomano
Distinct missense mutations of the FGFR3 lys650 codon modulate receptor kinase activation and the severity of the skeletal dysplasia phenotype.
American journal of human genetics 2000;67(6):1411-21.
2000: M J Wright; Michael C Ain; MV Clough; GA Bellus; O Hurko; Iain McIntosh
Achondroplasia and nail-patella syndrome: the compound phenotype.
Journal of medical genetics 2000;37(9):E25.
2000: Iain McIntosh; GA Bellus; E W Jab
The pleiotropic effects of fibroblast growth factor receptors in mammalian development.
Cell structure and function 2000;25(2):85-96.
1999: GA Bellus; Michael Bamshad; KA Przylepa; J Dorst; Roland R Lee; O Hurko; Ethylin Jabs; Cynthia J R Curry; William R Wilcox; Ralph S Lachman; David L Rimoin; Clair A Francomano
Severe achondroplasia with developmental delay and acanthosis nigricans (SADDAN): phenotypic analysis of a new skeletal dysplasia caused by a Lys650Met mutation in fibroblast growth factor receptor 3.
American journal of medical genetics 1999;85(1):53-65.
1999: P L Tavormina; GA Bellus; MK Webster; Michael Bamshad; A E Fraley; Iain McIntosh; J Szabo; W Jiang; Ethylin Jabs; William R Wilcox; JJ Wasmuth; Daniel J Donoghue; Leslie Michels Thompson; Clair A Francomano
A novel skeletal dysplasia with developmental delay and acanthosis nigricans is caused by a Lys650Met mutation in the fibroblast growth factor receptor 3 gene.
American journal of human genetics 1999;64(3):722-31.
1998: Douglas J Wilkin; J K Szabo; R Cameron; S Henderson; GA Bellus; M L Mack; Ilkka Kaitila; John Loughlin; A Munnich; B Sykes; J Bonaventure; Clair A Francomano
Mutations in fibroblast growth-factor receptor 3 in sporadic cases of achondroplasia occur exclusively on the paternally derived chromosome.
American journal of human genetics 1998;63(3):711-6.
1998: Ada Hamosh; JF Maher; GA Bellus; S A Rasmussen; Michael V Johnston
Long-term use of high-dose benzoate and dextromethorphan for the treatment of nonketotic hyperglycinemia.
The Journal of pediatrics 1998;132(4):709-13.
1997: Maximilian Muenke; Karen W Gripp; Donna M McDonald-McGinn; K Gaudenz; Linton A Whitaker; Scott P Bartlett; Richard Markowitz; N H Robin; NA Nwokoro; J J Mulvihill; H W Losken; J B Mulliken; A E Guttmacher; R S Wilroy; L A Clarke; Georgina Hollway; Lesley C Adès; Eric A Haan; John C Mulley; M M Cohen; GA Bellus; Clair A Francomano; DM Moloney; Steven A Wall; Andrew O M Wilkie
A unique point mutation in the fibroblast growth factor receptor 3 gene (FGFR3) defines a new craniosynostosis syndrome.
American journal of human genetics 1997;60(3):555-64.
1996: GA Bellus; K Gaudenz; E H Zackai; L A Clarke; J Szabo; Clair A Francomano; Maximilian Muenke
Identical mutations in three different fibroblast growth factor receptor genes in autosomal dominant craniosynostosis syndromes.
Nature genetics 1996;14(2):174-6.
1996: GA Bellus; Iain McIntosh; J Szabo; Arthur S Aylsworth; Ilkka Kaitila; Clair A Francomano
Hypochondroplasia: molecular analysis of the fibroblast growth factor receptor 3 gene.
Annals of the New York Academy of Sciences 1996;785():182-7.
1995: W J Park; GA Bellus; Ethylin Jabs
Mutations in fibroblast growth factor receptors: phenotypic consequences during eukaryotic development.
American journal of human genetics 1995;57(4):748-54.
1995: Jacqueline T Hecht; C A Herrera; G A Greenhaw; Clair A Francomano; GA Bellus; S Blanton
Confirmatory linkage of hypochondroplasia to chromosome arm 4p.
American journal of medical genetics 1995;57(3):505-6.
1995: GA Bellus; Iain McIntosh; E A Smith; Arthur S Aylsworth; Ilkka Kaitila; W A Horton; G A Greenhaw; Jacqueline T Hecht; Clair A Francomano
A recurrent mutation in the tyrosine kinase domain of fibroblast growth factor receptor 3 causes hypochondroplasia.
Nature genetics 1995;10(3):357-9.
1995: GA Bellus; T W Hefferon; R I Ortiz de Luna; Jacqueline T Hecht; W A Horton; M Machado; Ilkka Kaitila; Iain McIntosh; Clair A Francomano
Achondroplasia is defined by recurrent G380R mutations of FGFR3.
American journal of human genetics 1995;56(2):368-73.
1994: GA Bellus; C S Escallon; R Ortiz de Luna; J B Shumway; Karin J Blakemore; Iain McIntosh; Clair A Francomano
First-trimester prenatal diagnosis in couple at risk for homozygous achondroplasia.
Lancet 1994;344(8935):1511-2.
1994: Clair A Francomano; R I Ortiz de Luna; T W Hefferon; GA Bellus; C E Turner; E Taylor; Deborah A Meyers; S Blanton; J C Murray; Iain McIntosh
Localization of the achondroplasia gene to the distal 2.5 Mb of human chromosome 4p.
Human molecular genetics 1994;3(5):787-92.