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Iain McIntosh

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Roxann G Ingersoll; Jacqueline B Hetmanski; Ji Wan Park; MARGARET D FALLIN; Iain McIntosh; Yah-Huei Wu Chou; Philip K Chen; Vincent Yeow; Samuel S Chong; Felicia Cheah; Jae Woong Sull; Sun Ha Jee; Hong Wang; Tao Wu; Tanda Murray; Shangzhi Huang; Xiaoqian Ye; Ethylin Jabs; Richard Redett; Gerald V Raymond; Alan F Scott; Terri H beaty
Association between genes on chromosome 4p16 and non-syndromic oral clefts in four populations.
Reem Saadeh; Emily C Lisi; Denise A S Batista; Iain McIntosh; Julie E Hoover-Fong
Albinism and developmental delay: the need to test for 15q11-q13 deletion.
Ji Wan Park; Iain McIntosh; Jacqueline B Hetmanski; Ethylin Jabs; Craig A Vander Kolk; Yah-Huei Wu Chou; Philip K T Chen; Samuel S Chong; Vincent K L Yeow; Sun Ha Jee; Beyoung Yun Park; MARGARET D FALLIN; Roxann G Ingersoll; Alan F Scott; Terri H beaty
Association between IRF6 and nonsyndromic cleft lip with or without cleft palate in four populations.

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All Publications

2010: Roxann G Ingersoll; Jacqueline B Hetmanski; Ji Wan Park; MARGARET D FALLIN; Iain McIntosh; Yah-Huei Wu Chou; Philip K Chen; Vincent Yeow; Samuel S Chong; Felicia Cheah; Jae Woong Sull; Sun Ha Jee; Hong Wang; Tao Wu; Tanda Murray; Shangzhi Huang; Xiaoqian Ye; Ethylin Jabs; Richard Redett; Gerald V Raymond; Alan F Scott; Terri H beaty
Association between genes on chromosome 4p16 and non-syndromic oral clefts in four populations.
European journal of human genetics : EJHG 2010;18(6):726-32.
2007: Reem Saadeh; Emily C Lisi; Denise A S Batista; Iain McIntosh; Julie E Hoover-Fong
Albinism and developmental delay: the need to test for 15q11-q13 deletion.
Pediatric neurology 2007;37(4):299-302.
2007: Ji Wan Park; Iain McIntosh; Jacqueline B Hetmanski; Ethylin Jabs; Craig A Vander Kolk; Yah-Huei Wu Chou; Philip K T Chen; Samuel S Chong; Vincent K L Yeow; Sun Ha Jee; Beyoung Yun Park; MARGARET D FALLIN; Roxann G Ingersoll; Alan F Scott; Terri H beaty
Association between IRF6 and nonsyndromic cleft lip with or without cleft palate in four populations.
Genetics in medicine : official journal of the American College of Medical Genetics 2007;9(4):219-27.
2006: Terri H beaty; Jacqueline B Hetmanski; MARGARET D FALLIN; Ji Wan Park; J W Sull; Iain McIntosh; Kung-Yee Liang; Craig VanderKolk; Richard Redett; Simeon Boyd; Ethylin Jabs; Samuel S Chong; F S H Cheah; Yah-Huei Wu Chou; Philip K T Chen; Yen-Feng Chiu; Vincent K L Yeow; Ivy S L Ng; J Cheng; Shau-Ku Huang; X Ye; Hong Wang; Roxann G Ingersoll; Alan F Scott
Analysis of candidate genes on chromosome 2 in oral cleft case-parent trios from three populations.
Human genetics 2006;120(4):501-18.
2006: Ji Wan Park; Juanliang Cai; Iain McIntosh; Ethylin Jabs; MARGARET D FALLIN; Roxann G Ingersoll; Jacqueline B Hetmanski; Michel Vekemans; Tania Attie-Bitach; Michael Lovett; Alan F Scott; Terri H beaty
High throughput SNP and expression analyses of candidate genes for non-syndromic oral clefts.
Journal of medical genetics 2006;43(7):598-608.
2005: Terri H beaty; MARGARET D FALLIN; Jacqueline B Hetmanski; Iain McIntosh; Samuel S Chong; Roxann G Ingersoll; X Sheng; R Chakraborty; Alan F Scott
Haplotype diversity in 11 candidate genes across four populations.
Genetics 2005;171(1):259-67.
2005: Ji Wan Park; Terri H beaty; Paul Boyce; Alan F Scott; Iain McIntosh
Comparing whole-genome amplification methods and sources of biological samples for single-nucleotide polymorphism genotyping.
Clinical chemistry 2005;51(8):1520-3.
2005: Iain McIntosh; Jennifer A Dunston; L Liu; Julie E Hoover-Fong; Elizabeth Sweeney
Nail patella syndrome revisited: 50 years after linkage.
Annals of human genetics 2005;69(Pt 4):349-63.
2005: Adele L Towers; Cheryl A Clay; Susan M Sereika; Iain McIntosh; Susan L Greenspan
Skeletal integrity in patients with nail patella syndrome.
The Journal of clinical endocrinology and metabolism 2005;90(4):1961-5.
2005: Jennifer A Dunston; Tyler Reimschisel; Yu-Qiang Ding; Elizabeth Sweeney; Randy L Johnson; Zhou-Feng Chen; Iain McIntosh
A neurological phenotype in nail patella syndrome (NPS) patients illuminated by studies of murine Lmx1b expression.
European journal of human genetics : EJHG 2005;13(3):330-5.
2005: Jennifer A Dunston; Sandra Y Lin; J W Park; M Malbroux; Iain McIntosh
Phenotype severity and genetic variation at the disease locus: an investigation of nail dysplasia in the nail patella syndrome.
Annals of human genetics 2005;69(Pt 1):1-8.
2004: Jennifer A Dunston; Jeanette D Hamlington; Jayshree Zaveri; Elizabeth Sweeney; Julie Sibbring; Catherine Tran; Maria Malbroux; John P O'Neill; Roger Mountford; Iain McIntosh
The human LMX1B gene: transcription unit, promoter, and pathogenic mutations.
Genomics 2004;84(3):565-76.
2004: Mary L Marazita; Jeffrey C Murray; Andrew C Lidral; Mauricio Arcos-Burgos; Margaret E Cooper; Toby Goldstein; Brion S Maher; Sandra Daack-Hirsch; Rebecca Schultz; M Adela Mansilla; L Leigh Field; You-e Liu; Natalie Prescott; Sue Malcolm; Robin Winter; Ajit Ray; Lina Moreno; Consuelo Valencia; Katherine Neiswanger; Diego F Wyszynski; Joan E Bailey-Wilson; Hasan Albacha-Hejazi; Terri H beaty; Iain McIntosh; Jacqueline B Hetmanski; Gökhan Tunçbilek; Matthew Edwards; Louise Harkin; Rodney Scott; Laurence G Roddick
Meta-analysis of 13 genome scans reveals multiple cleft lip/palate genes with novel loci on 9q21 and 2q32-35.
American journal of human genetics 2004;75(2):161-73.
2004: Qing-liang Wang; Shiming Chen; Noriko Esumi; Prabodh K Swain; Heidi S Haines; Guanghua Peng; B Michele Melia; Iain McIntosh; John R Heckenlively; Samuel G Jacobson; Edwin M Stone; Anand Swaroop; Donald J Zack
QRX, a novel homeobox gene, modulates photoreceptor gene expression.
Human molecular genetics 2004;13(10):1025-40.
2003: Diego F Wyszynski; Hasan Albacha-Hejazi; Mohammed Aldirani; Moustafa Hammod; Hikmat Shkair; Ahmed Karam; Jehad Alashkar; Taura Holmes; Elizabeth W Pugh; Kimberly F Doheny; Iain McIntosh; Terri H beaty; Joan E Bailey-Wilson
A genome-wide scan for loci predisposing to non-syndromic cleft lip with or without cleft palate in two large Syrian families.
American journal of medical genetics. Part A 2003;123A(2):140-7.
2003: Joanna S Zeiger; Jacqueline B Hetmanski; Terri H beaty; Craig VanderKolk; Diego F Wyszynski; Joan E Bailey-Wilson; Rosa Ortiz de Luna; Claudia Perandones; Marie M Tolarova; Terezie Mosby; Ricardo D Bennun; Mabel Segovia; Pavel Calda; Elizabeth W Pugh; Kimberly F Doheny; Iain McIntosh
Evidence for linkage of nonsyndromic cleft lip with or without cleft palate to a region on chromosome 2.
European journal of human genetics : EJHG 2003;11(11):835-9.
2003: MARGARET D FALLIN; Jacqueline B Hetmanski; Jiwan Park; Alan F Scott; Roxann G Ingersoll; Hans A Fuernkranz; Iain McIntosh; Terri H beaty
Family-based analysis of MSX1 haplotypes for association with oral clefts.
Genetic epidemiology 2003;25(2):168-75.
2003: Elizabeth Sweeney; Alan Fryer; R Mountford; A Green; Iain McIntosh
Nail patella syndrome: a review of the phenotype aided by developmental biology.
Journal of medical genetics 2003;40(3):153-62.
2002: Dan E Arking; Alice Krebsova; Milan Macek Jr.; Milan Macek; Albert Arking; I Saira Mian; Linda P Fried; Ada Hamosh; Srabani Dey; Iain McIntosh; Harry C Dietz
Association of human aging with a functional variant of klotho.
Proceedings of the National Academy of Sciences of the United States of America 2002;99(2):856-61.
2002: Terri H beaty; Jacqueline B Hetmanski; Joanna S Zeiger; Y T Fan; Kung-Yee Liang; Craig VanderKolk; Iain McIntosh
Testing candidate genes for non-syndromic oral clefts using a case-parent trio design.
Genetic epidemiology 2002;22(1):1-11.
2001: Jeanette D Hamlington; C Jones; Iain McIntosh
Twenty-two novel LMX1B mutations identified in nail patella syndrome (NPS) patients.
Human mutation 2001;18(5):458.
2001: Barbara R Migeon; Ashis K Chowdhury; Jennifer A Dunston; Iain McIntosh
Identification of TSIX, encoding an RNA antisense to human XIST, reveals differences from its murine counterpart: implications for X inactivation.
American journal of human genetics 2001;69(5):951-60.
2001: Terri H beaty; Hong Wang; Jacqueline B Hetmanski; Y T Fan; Joanna S Zeiger; Kung-Yee Liang; Yen-Feng Chiu; Craig VanderKolk; K C Seifert; Eric A Wulfsberg; Gerald V Raymond; SUSAN PANNY; Iain McIntosh
A case-control study of nonsyndromic oral clefts in Maryland.
Annals of epidemiology 2001;11(6):434-42.
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: Colyn B Cargile; Iain McIntosh; MV Clough; Julie Rutberg; Reza Yaghmai; Barbara K Goodman; Xiao-Ning Chen; Julie R Korenberg; George H Thomas; Michael T Geraghty
Delayed membranous ossification of the cranium associated with familial translocation (2;3)(p15;q12).
American journal of medical genetics 2000;92(5):328-35.
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.
2000: Jeanette D Hamlington; MV Clough; Jennifer A Dunston; Iain McIntosh
Deletion of a branch-point consensus sequence in the LMX1B gene causes exon skipping in a family with nail patella syndrome.
European journal of human genetics : EJHG 2000;8(4):311-4.
1999: Frances A Farley; Paul R Lichter; Catherine A Downs; Iain McIntosh; Douglas Vollrath; Julia E Richards
An orthopaedic scoring system for nail-patella syndrome and application to a kindred with variable expressivity and glaucoma.
Journal of pediatric orthopedics 1999;19(5):624-31.
1999: Iain McIntosh; MV Clough; Eva Gak; Moshe Frydman
Prenatal diagnosis of nail-patella syndrome.
Prenatal diagnosis 1999;19(3):287-8.
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.
1999: MV Clough; Jeanette D Hamlington; Iain McIntosh
Restricted distribution of loss-of-function mutations within the LMX1B genes of nail-patella syndrome patients.
Human mutation 1999;14(6):459-65.
1998: Robert A Montgomery; Michael T Geraghty; E Bull; B D Gelb; M Johnson; Iain McIntosh; Clair A Francomano; Harry C Dietz
Multiple molecular mechanisms underlying subdiagnostic variants of Marfan syndrome.
American journal of human genetics 1998;63(6):1703-11.
1998: Iain McIntosh; Sandra D Dreyer; MV Clough; Jennifer A Dunston; W Eyaid; C M Roig; T Montgomery; S Ala-Mello; Ilkka Kaitila; Andreas Winterpacht; Bernhard Zabel; Moshe Frydman; W G Cole; Clair A Francomano; Brendan Lee
Mutation analysis of LMX1B gene in nail-patella syndrome patients.
American journal of human genetics 1998;63(6):1651-8.
1998: W M Eyaid; MV Clough; H Root; Kathleen M Scott; MK McCormick; X Zhang; N A Lisitsyn; W G Kearns; Clair A Francomano; Julia E Richards; Iain McIntosh
Physical mapping of the nail patella syndrome interval at 9q34: ordering of STSs and ESTs.
Human genetics 1998;103(4):525-6.
1998: Douglas Vollrath; VL Jaramillo-Babb; MV Clough; Iain McIntosh; Kathleen M Scott; Paul R Lichter; Julia E Richards
Loss-of-function mutations in the LIM-homeodomain gene, LMX1B, in nail-patella syndrome.
Human molecular genetics 1998;7(7):1091-8.
1998: S J Hwang; Terri H beaty; Iain McIntosh; T Hefferon; SUSAN PANNY
Association between homeobox-containing gene MSX1 and the occurrence of limb deficiency.
American journal of medical genetics 1998;75(4):419-23.
1997: NE Maestri; Terri H beaty; Jacqueline B Hetmanski; EA Smith; Iain McIntosh; Diego F Wyszynski; Kung-Yee Liang; DL Duffy; Craig VanderKolk
Application of transmission disequilibrium tests to nonsyndromic oral clefts: including candidate genes and environmental exposures in the models.
American journal of medical genetics 1997;73(3):337-44.
1997: Terri H beaty; NE Maestri; Jacqueline B Hetmanski; Diego F Wyszynski; Craig VanderKolk; J C Simpson; Iain McIntosh; EA Smith; Joanna S Zeiger; Gerald V Raymond; SUSAN PANNY; C J Tifft; AF Lewanda; C A Cristion; Eric A Wulfsberg
Testing for interaction between maternal smoking and TGFA genotype among oral cleft cases born in Maryland 1992-1996.
The Cleft palate-craniofacial journal : official publication of the American Cleft Palate-Craniofacial Association 1997;34(5):447-54.
1997: Diego F Wyszynski; NE Maestri; AF Lewanda; Iain McIntosh; EA Smith; C García-Delgado; E Vinageras-Guarneros; Eric A Wulfsberg; Terri H beaty
No evidence of linkage for cleft lip with or without cleft palate to a marker near the transforming growth factor alpha locus in two populations.
Human heredity 1997;47(2):101-9.
1997: Diego F Wyszynski; NE Maestri; Iain McIntosh; EA Smith; AF Lewanda; C Garcia-Delgado; E Vinageras-Guarneros; Eric A Wulfsberg; Terri H beaty
Evidence for an association between markers on chromosome 19q and non-syndromic cleft lip with or without cleft palate in two groups of multiplex families.
Human genetics 1997;99(1):22-6.
1997: Iain McIntosh; MV Clough; A A Schäffer; Erik G Puffenberger; VK Horton; K Peters; Margaret H Abbott; C M Roig; S Cutone; L Ozelius; D J Kwiatkowski; R E Pyeritz; L J Brown; Richard M Pauli; MK McCormick; Clair A Francomano
Fine mapping of the nail-patella syndrome locus at 9q34.
American journal of human genetics 1997;60(1):133-42.
1996: Y Jin; Harry C Dietz; Robert A Montgomery; W R Bell; Iain McIntosh; Barry S Coller; Paul F Bray
Glanzmann thrombasthenia. Cooperation between sequence variants in cis during splice site selection.
The Journal of clinical investigation 1996;98(8):1745-54.
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.
1996: Clair A Francomano; Iain McIntosh; D J Wilkin
Bone dysplasias in man: molecular insights.
Current opinion in genetics & development 1996;6(3):301-8.
1996: S Sood; Zayd Eldadah; W L Krause; Iain McIntosh; Harry C Dietz
Mutation in fibrillin-1 and the Marfanoid-craniosynostosis (Shprintzen-Goldberg) syndrome.
Nature genetics 1996;12(2):209-11.
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: G Nijbroek; S Sood; Iain McIntosh; Clair A Francomano; E Bull; L Pereira; F Ramirez; Reed E Pyeritz; Harry C Dietz
Fifteen novel FBN1 mutations causing Marfan syndrome detected by heteroduplex analysis of genomic amplicons.
American journal of human genetics 1995;57(1):8-21.
1995: S J Hwang; Terri H beaty; SUSAN PANNY; N A Street; J M Joseph; S Gordon; Iain McIntosh; Clair A Francomano
Association study of transforming growth factor alpha (TGF alpha) TaqI polymorphism and oral clefts: indication of gene-environment interaction in a population-based sample of infants with birth defects.
American journal of epidemiology 1995;141(7):629-36.
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.
1995: Iain McIntosh; Margaret H Abbott; Clair A Francomano
Concentration of mutations causing Schmid metaphyseal chondrodysplasia in the C-terminal noncollagenous domain of type X collagen.
Human mutation 1995;5(2):121-5.
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: L D Piersall; Harry C Dietz; B D Hall; R G Cadle; Reed E Pyeritz; Clair A Francomano; Iain McIntosh
Substitution of a cysteine residue in a non-calcium binding, EGF-like domain of fibrillin segregates with the Marfan syndrome in a large kindred.
Human molecular genetics 1994;3(6):1013-4.
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.
1994: Iain McIntosh; Margaret H Abbott; Matthew L Warman; B R Olsen; Clair A Francomano
Additional mutations of type X collagen confirm COL10A1 as the Schmid metaphyseal chondrodysplasia locus.
Human molecular genetics 1994;3(2):303-7.
1993: Matthew L Warman; M Abbott; S S Apte; T Hefferon; Iain McIntosh; Daniel H Cohn; J T Hecht; Bjorn R Olsen; Clair A Francomano
A type X collagen mutation causes Schmid metaphyseal chondrodysplasia.
Nature genetics 1993;5(1):79-82.
1993: Harry C Dietz; Iain McIntosh; Lynn Y Sakai; G M Corson; S C Chalberg; Reed E Pyeritz; Clair A Francomano
Four novel FBN1 mutations: significance for mutant transcript level and EGF-like domain calcium binding in the pathogenesis of Marfan syndrome.
Genomics 1993;17(2):468-75.
1993: Iain McIntosh; Ada Hamosh; Harry C Dietz
Nonsense mutations and diminished mRNA levels.
Nature genetics 1993;4(3):219.
1992: Ada Hamosh; T M King; Beryl J Rosenstein; M Corey; H Levison; Peter Roy Durie; L C Tsui; Iain McIntosh; M Keston; D J Brock
Cystic fibrosis patients bearing both the common missense mutation Gly----Asp at codon 551 and the delta F508 mutation are clinically indistinguishable from delta F508 homozygotes, except for decreased risk of meconium ileus.
American journal of human genetics 1992;51(2):245-50.
1992: C T Jones; Iain McIntosh; M Keston; A Ferguson; D J Brock
Three novel mutations in the cystic fibrosis gene detected by chemical cleavage: analysis of variant splicing and a nonsense mutation.
Human molecular genetics 1992;1(1):11-7.
1992: Milan Macek Jr.; Ada Hamosh; S Kiesewetter; Iain McIntosh; Beryl J Rosenstein; Garry R Cutting
Identification of a novel nonsense mutation (L88X) in exon 3 of the cystic fibrosis transmembrane conductance regulator gene in a native Korean cystic fibrosis chromosome.
Human mutation 1992;1(6):501-2.
1991: A E Shrimpton; Iain McIntosh; D J Brock
The incidence of different cystic fibrosis mutations in the Scottish population: effects on prenatal diagnosis and genetic counselling.
Journal of medical genetics 1991;28(5):317-21.
1991: D J Brock; A E Shrimpton; C Jones; Iain McIntosh
Cystic fibrosis: the new genetics.
Journal of the Royal Society of Medicine 1991;84 Suppl 18():2-6.
1990: Iain McIntosh; A Curtis; M L Lorenzo; M Keston; A J Gilfillan; G Morris; D J Brock
The haplotype distribution of the delta F508 mutation in cystic fibrosis families in Scotland.
Human genetics 1990;85(4):419-20.
1989: Iain McIntosh; M L Lorenzo; D J Brock
Frequency of delta F508 mutation on cystic fibrosis chromosomes in UK.
Lancet 1989;2(8676):1404-5.
1989: Iain McIntosh; A Curtis; F A Millan; D J Brock
Prenatal exclusion testing for Huntington disease using the polymerase chain reaction.
American journal of medical genetics 1989;32(2):274-6.