FIND

researchers

DISCOVER

relevant articles

PROMOTE

your research

now for free

Clair Francomano

Research Profile

Concepts & Ideas

Chemicals & Drugs

Disorders

Procedures

Physiology

Genes & Molecular Sequences

Co-author Network

Publications

TOP 3
Gail Geller; CYNTHIA RUSHTON; Clair A Francomano; Ken Kolodner; Barbara A Bernhardt
Genetics professionals' experiences with grief and loss: implications for support and training.
Thomas H Milhorat; Paolo A Bolognese; Misao Nishikawa; Clair A Francomano; Nazli B McDonnell; Chanland Roonprapunt; Roger W Kula
Association of Chiari malformation type I and tethered cord syndrome: preliminary results of sectioning filum terminale.
Thomas H Milhorat; Paolo A Bolognese; Misao Nishikawa; Nazli B McDonnell; Clair A Francomano
Syndrome of occipitoatlantoaxial hypermobility, cranial settling, and chiari malformation type I in patients with hereditary disorders of connective tissue.

Register for free to view:

Visualized networks:

See your personal network in
sophisticated graphical views

GeoTargeted Searches:

Locate experts around the world
and connect with global collaborators

Research Profiles:

See the research activity
of experts around the globe

Geonetwork of Clair Francomano (preview)

Cities where this author has publications
Cities where co-authors of this author have publications

Flash Player Required

All Publications

2010: Gail Geller; CYNTHIA RUSHTON; Clair A Francomano; Ken Kolodner; Barbara A Bernhardt
Genetics professionals' experiences with grief and loss: implications for support and training.
Clinical genetics 2010;77(5):421-9.
2009: Thomas H Milhorat; Paolo A Bolognese; Misao Nishikawa; Clair A Francomano; Nazli B McDonnell; Chanland Roonprapunt; Roger W Kula
Association of Chiari malformation type I and tethered cord syndrome: preliminary results of sectioning filum terminale.
Surgical neurology 2009;72(1):20-35.
2007: Thomas H Milhorat; Paolo A Bolognese; Misao Nishikawa; Nazli B McDonnell; Clair A Francomano
Syndrome of occipitoatlantoaxial hypermobility, cranial settling, and chiari malformation type I in patients with hereditary disorders of connective tissue.
Journal of neurosurgery. Spine 2007;7(6):601-9.
2006: Z Zhang; JINSHUI FAN; K G Becker; Ronald D Graff; Greta M Lee; Clair A Francomano
Comparison of gene expression profile between human chondrons and chondrocytes: a cDNA microarray study.
Osteoarthritis and cartilage / OARS, Osteoarthritis Research Society 2006;14(5):449-59.
2006: Nazli B McDonnell; Beverly L Gorman; Katherine W Mandel; Shepherd H Schurman; Alison Assanah-Carroll; SUSAN MAYER; Samer S Najjar; Clair A Francomano
Echocardiographic findings in classical and hypermobile Ehlers-Danlos syndromes.
American journal of medical genetics. Part A 2006;140(2):129-36.
2005: Peter S Rose; HOWARD LEVY; Ruth M Liberfarb; Joie Davis; Yvonne M Szymko-Bennett; Benjamin I Rubin; Ekaterini T Tsilou; Andrew J Griffith; Clair A Francomano
Stickler syndrome: clinical characteristics and diagnostic criteria.
American journal of medical genetics. Part A 2005;138A(3):199-207.
2005: Gail Geller; Clair A Francomano
Complementary medicine and genetic medicine: polar disciplines or dynamic partners?
Journal of alternative and complementary medicine (New York, N.Y.) 2005;11(2):343-7.
2005: Zijun Zhang; J Michael McCaffery; RICHARD SPENCER; Clair A Francomano
Growth and integration of neocartilage with native cartilage in vitro.
Journal of orthopaedic research : official publication of the Orthopaedic Research Society 2005;23(2):433-9.
2004: Nicola C. Ho; Michael Guarnieri; Larry J Brant; Susan S Park; Bonnie Sun; Marisa North; Clair A Francomano; Benjamin S Carson
Living with achondroplasia: quality of life evaluation following cervico-medullary decompression.
American journal of medical genetics. Part A 2004;131(2):163-7.
2004: Arsun Bektas; Shepherd H Schurman; Alexei A Sharov; Mark Carter; Harry C Dietz; Clair A Francomano
Klotho gene variation and expression in 20 inbred mouse strains.
Mammalian genome : official journal of the International Mammalian Genome Society 2004;15(10):759-67.
2004: Zijun Zhang; J Michael McCaffery; RICHARD SPENCER; Clair A Francomano
Hyaline cartilage engineered by chondrocytes in pellet culture: histological, immunohistochemical and ultrastructural analysis in comparison with cartilage explants.
Journal of anatomy 2004;205(3):229-37.
2003: Zi-Jun Zhang; James Huckle; Clair A Francomano; RICHARD SPENCER
The effects of pulsed low-intensity ultrasound on chondrocyte viability, proliferation, gene expression and matrix production.
Ultrasound in medicine & biology 2003;29(11):1645-51.
2003: Ti Lin; Stacey B Sandusky; Haipeng Xue; Kenneth W Fishbein; RICHARD SPENCER; Mahendra S Rao; Clair A Francomano
A central nervous system specific mouse model for thanatophoric dysplasia type II.
Human molecular genetics 2003;12(21):2863-71.
2003: Maaret Ridanpää; Pawan Jain; Victor A McKusick; Clair A Francomano; Ilkka Kaitila
The major mutation in the RMRP gene causing CHH among the Amish is the same as that found in most Finnish cases.
American journal of medical genetics. Part C, Seminars in medical genetics 2003;121C(1):81-3.
2003: Petra Platte; George J Papanicolaou; jennifer johnston; C M Klein; Kimberly F Doheny; Elizabeth W Pugh; Marie-Hélène Roy-Gagnon; A J Stunkard; Clair A Francomano; A F Wilson
A study of linkage and association of body mass index in the Old Order Amish.
American journal of medical genetics. Part C, Seminars in medical genetics 2003;121C(1):71-80.
2003: Clair A Francomano; Victor A McKusick; Leslie G Biesecker
Medical genetic studies in the Amish: historical perspective.
American journal of medical genetics. Part C, Seminars in medical genetics 2003;121C(1):1-4.
2003: Nicola C. Ho; Stacey Sandusky; Victor Madike; Clair A Francomano; Marinos C Dalakas
Clinico-pathogenetic findings and management of chondrodystrophic myotonia (Schwartz-Jampel syndrome): a case report.
BMC neurology 2003;3():3.
2003: Ruth M Liberfarb; HOWARD LEVY; Peter S Rose; Douglas J Wilkin; Joie Davis; Joan Z Balog; Andrew J Griffith; Yvonne M Szymko-Bennett; jennifer johnston; Clair A Francomano; Ekaterini T Tsilou; Benhamin I Rubin
The Stickler syndrome: genotype/phenotype correlation in 10 families with Stickler syndrome resulting from seven mutations in the type II collagen gene locus COL2A1.
Genetics in medicine : official journal of the American College of Medical Genetics 2003;5(1):21-7.
2002: Z i-Jun Zhang; James Huckle; Clair A Francomano; RICHARD SPENCER
The influence of pulsed low-intensity ultrasound on matrix production of chondrocytes at different stages of differentiation: an explant study.
Ultrasound in medicine & biology 2002;28(11-12):1547-53.
2002: David B Everman; Cynthia F Bartels; Yue Yang; Niranjan Yanamandra; Frances R Goodman; J Roberto Mendoza-Londono; Ravi Savarirayan; Susan M White; John M Graham; Robert Peter Gale; Eva Svarch; William G Newman; Albert R Kleckers; Clair A Francomano; Govindaiah Vinukonda; Lalji Singh; Stuart Morrison; J Terrig Thomas; Matthew L Warman
The mutational spectrum of brachydactyly type C.
American journal of medical genetics 2002;112(3):291-6.
2002: Holly C Gooding; Karina Boehm; Richard E Thompson; Don Hadley; Clair A Francomano; Barbara Bowles Biesecker
Issues surrounding prenatal genetic testing for achondroplasia.
Prenatal diagnosis 2002;22(10):933-40.
2002: Nicola C. Ho; Donald W Hadley; Pawan K Jain; Clair A Francomano
Case 47: dural ectasia associated with Marfan syndrome.
Radiology 2002;223(3):767-71.
2002: Richard J Wenstrup; Richard A Meyer; Jennifer S Lyle; Leah Hoechstetter; Peter S Rose; HOWARD LEVY; Clair A Francomano
Prevalence of aortic root dilation in the Ehlers-Danlos syndrome.
Genetics in medicine : official journal of the American College of Medical Genetics 2002;4(3):112-7.
2002: Eri Arikawa-Hirasawa; Alexander H Le; Ichizo Nishino; Ikuya Nonaka; Nicola C. Ho; Clair A Francomano; Prasanthi Govindraj; John R Hassell; Joseph M Devaney; Jürgen Spranger; Roger E Stevenson; Susan Iannaccone; Marinos C Dalakas; Yoshihiko Yamada
Structural and functional mutations of the perlecan gene cause Schwartz-Jampel syndrome, with myotonic myopathy and chondrodysplasia.
American journal of human genetics 2002;70(5):1368-75.
2002: Libin Jia; Marian F Young; John Powell; Liming Yang; Nicola C. Ho; Robert Hotchkiss; Pamela Robey; Clair A Francomano
Gene expression profile of human bone marrow stromal cells: high-throughput expressed sequence tag sequencing analysis.
Genomics 2002;79(1):7-17.
2001: Kathryn F Peters; Robert Horne; F Kong; Clair A Francomano; Barbara Bowles Biesecker
Living with Marfan syndrome II. Medication adherence and physical activity modification.
Clinical genetics 2001;60(4):283-92.
2001: Kathryn F Peters; F Kong; Robert Horne; Clair A Francomano; Barbara Bowles Biesecker
Living with Marfan syndrome I. Perceptions of the condition.
Clinical genetics 2001;60(4):273-82.
2001: Yvonne M Szymko-Bennett; Mary Ann Mastroianni; Lawrence I Shotland; J Davis; Frank G Ondrey; J Z Balog; Susan F Rudy; Linda McCullagh; HOWARD LEVY; Ruth M Liberfarb; Clair A Francomano; Andrew J Griffith
Auditory dysfunction in Stickler syndrome.
Archives of otolaryngology--head & neck surgery 2001;127(9):1061-8.
2001: Peter S Rose; Nicholas U Ahn; HOWARD LEVY; DONNA MAGID; Joie Davis; Ruth M Liberfarb; Paul D Sponseller; Clair A Francomano
The hip in Stickler syndrome.
Journal of pediatric orthopedics 2001;21(5):657-63.
2001: T Iwata; C L Li; C X Deng; Clair A Francomano
Highly activated Fgfr3 with the K644M mutation causes prolonged survival in severe dwarf mice.
Human molecular genetics 2001;10(12):1255-64.
2001: Peter S Rose; Nicholas U Ahn; HOWARD LEVY; Uri M Ahn; Joie Davis; Ruth M Liberfarb; Leelakrishna Nallamshetty; Paul D Sponseller; Clair A Francomano
Thoracolumbar spinal abnormalities in Stickler syndrome.
Spine 2001;26(4):403-9.
2001: L M King; Clair A Francomano
Characterization of a human gene encoding nucleosomal binding protein NSBP1.
Genomics 2001;71(2):163-73.
2001: L Jia; Nicola C. Ho; S S Park; J Powell; Clair A Francomano
Comprehensive resource: Skeletal gene database.
American journal of medical genetics 2001;106(4):275-81.
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: Nicola C. Ho; L Jia; C C Driscoll; E M Gutter; Clair A Francomano
A skeletal gene database.
Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral Research 2000;15(11):2095-122.
2000: Christopher B Granger; B Keavney; Clair A Francomano; G Olsson; Salim Yusuf
Recommendations for national and local regulatory authorities concerning research in genetic markers of disease.
American heart journal 2000;140(4):S3-5.
2000: jennifer johnston; Richard I Kelley; Thomas O Crawford; D Holmes Morton; Richa Agarwala; T Koch; Alejandro A Schäffer; Clair A Francomano; Leslie G Biesecker
A novel nemaline myopathy in the Amish caused by a mutation in troponin T1.
American journal of human genetics 2000;67(4):814-21.
2000: Douglas J Wilkin; Ruth M Liberfarb; J Davis; HOWARD LEVY; W G Cole; Clair A Francomano; Daniel H Cohn
Rapid determination of COL2A1 mutations in individuals with Stickler syndrome: analysis of potential premature termination codons.
American journal of medical genetics 2000;94(2):141-8.
2000: Peter S Rose; HOWARD LEVY; Nicholas U Ahn; Paul D Sponseller; T Magyari; Joie Davis; Clair A Francomano
A comparison of the Berlin and Ghent nosologies and the influence of dural ectasia in the diagnosis of Marfan syndrome.
Genetics in medicine : official journal of the American College of Medical Genetics 2000;2(5):278-82.
2000: Nicola C. Ho; HOWARD LEVY; Clair A Francomano; O Elkayam
Minocycline-induced generalized postinflammatory elastolysis.
The American journal of medicine 2000;109(4):340-1.
2000: Nicola C. Ho; F Lacbawan; Clair A Francomano; V Ho
Severe hypodontia and oral xanthomas in Alagille syndrome.
American journal of medical genetics 2000;93(3):250-2.
2000: T Iwata; L Chen; C Li; D A Ovchinnikov; R R Behringer; Clair A Francomano; C X Deng
A neonatal lethal mutation in FGFR3 uncouples proliferation and differentiation of growth plate chondrocytes in embryos.
Human molecular genetics 2000;9(11):1603-13.
2000: Victor L Ruiz-Perez; S E Ide; Tim M Strom; B Lorenz; D Wilson; K Woods; L King; Clair A Francomano; Peter Freisinger; S Spranger; B Marino; B Dallapiccola; M Wright; Thomas Meitinger; Mihael H Polymeropoulos; Judith A Goodship
Mutations in a new gene in Ellis-van Creveld syndrome and Weyers acrodental dysostosis.
Nature genetics 2000;24(3):283-6.
2000: Nicola C. Ho; Clair A Francomano; M van Allen
Jeune asphyxiating thoracic dystrophy and short-rib polydactyly type III (Verma-Naumoff) are variants of the same disorder.
American journal of medical genetics 2000;90(4):310-4.
2000: Z Vajo; Clair A Francomano; Douglas J Wilkin
The molecular and genetic basis of fibroblast growth factor receptor 3 disorders: the achondroplasia family of skeletal dysplasias, Muenke craniosynostosis, and Crouzon syndrome with acanthosis nigricans.
Endocrine reviews 2000;21(1):23-39.
1999: T Ben-Yosef; Clair A Francomano
Characterization of the human talin (TLN) gene: genomic structure, chromosomal localization, and expression pattern.
Genomics 1999;62(2):316-9.
1999: Z Vajo; L M King; Tanya Jonassen; Douglas J Wilkin; Nicola C. Ho; A Munnich; Catherine F Clarke; Clair A Francomano
Conservation of the Caenorhabditis elegans timing gene clk-1 from yeast to human: a gene required for ubiquinone biosynthesis with potential implications for aging.
Mammalian genome : official journal of the International Mammalian Genome Society 1999;10(10):1000-4.
1999: Nicola C. Ho; A Punturieri; Douglas J Wilkin; J Szabo; M Johnson; J Whaley; Joie Davis; A Clark; S Weiss; Clair A Francomano
Mutations of CTSK result in pycnodysostosis via a reduction in cathepsin K protein.
Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral Research 1999;14(10):1649-53.
1999: M Deere; T Sanford; Clair A Francomano; K Daniels; Jacqueline T Hecht
Identification of nine novel mutations in cartilage oligomeric matrix protein in patients with pseudoachondroplasia and multiple epiphyseal dysplasia.
American journal of medical genetics 1999;85(5):486-90.
1999: Douglas J Wilkin; A S Artz; S South; Ralph S Lachman; David L Rimoin; William R Wilcox; Victor A McKusick; Constantine Straturis; Clair A Francomano; Daniel H Cohn
Small deletions in the type II collagen triple helix produce kniest dysplasia.
American journal of medical genetics 1999;85(2):105-12.
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: Yaoqin Gong; Deborah Krakow; Jose Marcelino; Douglas J Wilkin; David Chitayat; R Babul-Hirji; L Hudgins; C W Cremers; F P Cremers; H G Brunner; Kent Reinker; David L Rimoin; Daniel H Cohn; Frances R Goodman; William Reardon; M Patton; Clair A Francomano; Matthew L Warman
Heterozygous mutations in the gene encoding noggin affect human joint morphogenesis.
Nature genetics 1999;21(3):302-4.
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: 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 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: A C O'Connell; Michael T Brennan; Clair A Francomano
Pycnodysostosis: orofacial manifestations in two pediatric patients.
Pediatric dentistry 1998;20(3):204-7.
1998: S Chang; Marjorie J Rosenberg; H Morton; Clair A Francomano; Leslie G Biesecker
Identification of a mutation in liver glycogen phosphorylase in glycogen storage disease type VI.
Human molecular genetics 1998;7(5):865-70.
1998: Peter J Mogayzel; John L Carroll; Gerald M Loughlin; O Hurko; Clair A Francomano; Carole L Marcus
Sleep-disordered breathing in children with achondroplasia.
The Journal of pediatrics 1998;132(4):667-71.
1998: Richa Agarwala; L G Biesecker; K A Hopkins; Clair A Francomano; A A Schaffer
Software for constructing and verifying pedigrees within large genealogies and an application to the Old Order Amish of Lancaster County.
Genome research 1998;8(3):211-21.
1998: DL Stone; Richa Agarwala; Alejandro A Schäffer; James L Weber; David Vaske; T Oda; Settara C Chandrasekharappa; Clair A Francomano; Leslie G Biesecker
Genetic and physical mapping of the McKusick-Kaufman syndrome.
Human molecular genetics 1998;7(3):475-81.
1997: M R Johnson; Douglas J Wilkin; H L Vos; R I Ortiz de Luna; AM Dehejia; Mihael H Polymeropoulos; Clair A Francomano
Characterization of the human extracellular matrix protein 1 gene on chromosome 1q21.
Matrix biology : journal of the International Society for Matrix Biology 1997;16(5):289-92.
1997: DM Moloney; Steven A Wall; G J Ashworth; Michael Oldridge; I A Glass; Clair A Francomano; Maximilian Muenke; Andrew O M Wilkie
Prevalence of Pro250Arg mutation of fibroblast growth factor receptor 3 in coronal craniosynostosis.
Lancet 1997;349(9058):1059-62.
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.
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: Mihael H Polymeropoulos; S E Ide; T Magyari; Clair A Francomano
Brachydactyly type C gene maps to human chromsome 12q24.
Genomics 1996;38(1):45-50.
1996: M R Johnson; Mihael H Polymeropoulos; H L Vos; R I Ortiz de Luna; Clair A Francomano
A nonsense mutation in the cathepsin K gene observed in a family with pycnodysostosis.
Genome research 1996;6(11):1050-5.
1996: S E Ide; R I Ortiz de Luna; Clair A Francomano; Mihael H Polymeropoulos
Exclusion of the MSX1 homeobox gene as the gene for the Ellis van Creveld syndrome in the Amish.
Human genetics 1996;98(5):572-5.
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: Linda P Fried; Clair A Francomano; Susan M MacDonald; Elizabeth M Wagner; E J Stokes; Kathryn M Carbone; W B Bias; M M Newman; J D Stobo
Career development for women in academic medicine: Multiple interventions in a department of medicine.
JAMA : the journal of the American Medical Association 1996;276(11):898-905.
1996: Mihael H Polymeropoulos; S E Ide; M Wright; J Goodship; Jean Weissenbach; R E Pyeritz; E O Da Silva; R I Ortiz De Luna; Clair A Francomano
The gene for the Ellis-van Creveld syndrome is located on chromosome 4p16.
Genomics 1996;35(1):1-5.
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: Victor A McKusick; J S Amberger; Clair A Francomano
Progress in medical genetics: map-based gene discovery and the molecular pathology of skeletal dysplasias.
American journal of medical genetics 1996;63(1):98-105.
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: Jacqueline T Hecht; L D Nelson; E Crowder; Y Wang; Frederick F Elder; W R Harrison; Clair A Francomano; CK Prange; GG Lennon; M Deere
Mutations in exon 17B of cartilage oligomeric matrix protein (COMP) cause pseudoachondroplasia.
Nature genetics 1995;10(3):325-9.
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: Mihael H Polymeropoulos; R I Ortiz De Luna; S E Ide; R Torres; J Rubenstein; Clair A Francomano
The gene for pycnodysostosis maps to human chromosome 1cen-q21.
Nature genetics 1995;10(2):238-9.
1995: Mihael H Polymeropoulos; J Poush; J R Rubenstein; Clair A Francomano
Localization of the gene (SYM1) for proximal symphalangism to human chromosome 17q21-q22.
Genomics 1995;27(2):225-9.
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: Harry C Dietz; U Francke; H Furthmayr; Clair A Francomano; A De Paepe; R Devereux; F Ramirez; R Pyeritz
The question of heterogeneity in Marfan syndrome.
Nature genetics 1995;9(3):228-31.
1995: Daniel S Greenspan; Hope Northrup; Kit-Sing Au; K A McAllister; Clair A Francomano; R J Wenstrup; Douglas A Marchuk; D J Kwiatkowski
COL5A1: fine genetic mapping and exclusion as candidate gene in families with nail-patella syndrome, tuberous sclerosis 1, hereditary hemorrhagic telangiectasia, and Ehlers-Danlos Syndrome type II.
Genomics 1995;25(3):737-9.
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.
1995: Clair A Francomano
The genetic basis of dwarfism.
The New England journal of medicine 1995;332(1):58-9.
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.
1995: Clair A Francomano
Key role for a minor collagen.
Nature genetics 1995;9(1):6-8.
1994: Maria Karayiorgou; L Kasch; Virginia K Lasseter; J Hwang; R Elango; D J Bernardini; M Kimberland; R Babb; Clair A Francomano; Paula S Wolyniec
Report from the Maryland Epidemiology Schizophrenia Linkage Study: no evidence for linkage between schizophrenia and a number of candidate and other genomic regions using a complex dominant model.
American journal of medical genetics 1994;54(4):345-53.
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: T Sulisalo; J Klockars; Outi Mäkitie; Clair A Francomano; Albert de La Chapelle; Ilkka Kaitila; Pertti Sistonen
High-resolution linkage-disequilibrium mapping of the cartilage-hair hypoplasia gene.
American journal of human genetics 1994;55(5):937-45.
1994: P Pearson; Clair A Francomano; P Foster; C Bocchini; P Li; Victor A McKusick
The status of online Mendelian inheritance in man (OMIM) medio 1994.
Nucleic acids research 1994;22(17):3470-3.
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: T Sulisalo; Clair A Francomano; Pertti Sistonen; J F Maher; Victor A McKusick; Albert de La Chapelle; Ilkka Kaitila
High-resolution genetic mapping of the cartilage-hair hypoplasia (CHH) gene in Amish and Finnish families.
Genomics 1994;20(3):347-53.
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: Jacqueline T Hecht; Clair A Francomano; Michael D Briggs; M Deere; B Conner; W A Horton; Matthew L Warman; Daniel H Cohn; S Blanton
Linkage of typical pseudoachondroplasia to chromosome 19.
Genomics 1993;18(3):661-6.
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: A Cook; Wendy H Raskind; S Blanton; Richard M Pauli; R G Gregg; Clair A Francomano; E Puffenberger; E U Conrad; G Schmale; Gerard D Schellenberg
Genetic heterogeneity in families with hereditary multiple exostoses.
American journal of human genetics 1993;53(1):71-9.
1993: Gloria M Petersen; Clair A Francomano; Kenneth W Kinzler; Y Nakamura
Presymptomatic direct detection of adenomatous polyposis coli (APC) gene mutations in familial adenomatous polyposis.
Human genetics 1993;91(4):307-11.
1993: Harry C Dietz; David Valle; Clair A Francomano; R J Kendzior; Reed E Pyeritz; Garry R Cutting
The skipping of constitutive exons in vivo induced by nonsense mutations.
Science (New York, N.Y.) 1993;259(5095):680-3.
1992: Pamela J Amelung; Carolien I Panhuysen; Dirkje S Postma; Roy Levitt; G H Koeter; Clair A Francomano; Eugene R Bleecker; Deborah A Meyers
Atopy and bronchial hyperresponsiveness: exclusion of linkage to markers on chromosomes 11q and 6p.
Clinical and experimental allergy : journal of the British Society for Allergy and Clinical Immunology 1992;22(12):1077-84.
1992: Jacqueline T Hecht; S Blanton; Y Wang; Stephen P Daiger; W A Horton; C Rhodes; Y Yamada; Clair A Francomano
Exclusion of human proteoglycan link protein (CRTL1) and type II collagen (COL2A1) genes in pseudoachondroplasia.
American journal of medical genetics 1992;44(4):420-4.
1992: Ada Hamosh; JOHN MCDONALD; David Valle; Clair A Francomano; E Niedermeyer; Michael V Johnston
Dextromethorphan and high-dose benzoate therapy for nonketotic hyperglycinemia in an infant.
The Journal of pediatrics 1992;121(1):131-5.
1992: Y S Rabinowitz; Irene H Maumenee; M K Lundergan; E Puffenberger; D Zhu; S Antonarakis; Clair A Francomano
Molecular genetic analysis in autosomal dominant keratoconus.
Cornea 1992;11(4):302-8.
1992: William Schwindinger; Clair A Francomano; Michael Levine
Identification of a mutation in the gene encoding the alpha subunit of the stimulatory G protein of adenylyl cyclase in McCune-Albright syndrome.
Proceedings of the National Academy of Sciences of the United States of America 1992;89(11):5152-6.
1992: Harry C Dietz; Reed E Pyeritz; E G Puffenberger; R J Kendzior; G M Corson; Cheryl L Maslen; Lynn Y Sakai; Clair A Francomano; Garry R Cutting
Marfan phenotype variability in a family segregating a missense mutation in the epidermal growth factor-like motif of the fibrillin gene.
The Journal of clinical investigation 1992;89(5):1674-80.
1992: Clair A Francomano
Diagnostic approaches to renal genetic disorders using DNA analysis.
Pediatric nephrology (Berlin, Germany) 1992;6(1):113-8.
1992: Harry C Dietz; J M Saraiva; Reed E Pyeritz; Garry R Cutting; Clair A Francomano
Clustering of fibrillin (FBN1) missense mutations in Marfan syndrome patients at cysteine residues in EGF-like domains.
Human mutation 1992;1(5):366-74.
1991: William Schwindinger; Clair A Francomano; Michael Levine; Victor A McKusick
DNA light on the Tegernsee giant.
Lancet 1991;338(8780):1454-5.
1991: K Kainulainen; Beat Steinmann; F Collins; Harry C Dietz; Clair A Francomano; A Child; M W Kilpatrick; D J Brock; M Keston; R E Pyeritz
Marfan syndrome: no evidence for heterogeneity in different populations, and more precise mapping of the gene.
American journal of human genetics 1991;49(3):662-7.
1991: Clair A Francomano; Garry R Cutting; M K McCormick; M L Chu; R Timpl; H K Hong; S E Antonarakis
The COL6A1 and COL6A2 genes exist as a gene cluster and detect highly informative DNA polymorphisms in the telomeric region of human chromosome 21q.
Human genetics 1991;87(2):162-6.
1991: E G Puffenberger; Clair A Francomano
PCR-based detection of polymorphic DdeI and KpnI sites in intron 5 of the adenylate kinase (AK1) gene.
Nucleic acids research 1991;19(5):1161.
1991: Harry C Dietz; Reed E Pyeritz; B D Hall; R G Cadle; Ada Hamosh; J Schwartz; Deborah A Meyers; Clair A Francomano
The Marfan syndrome locus: confirmation of assignment to chromosome 15 and identification of tightly linked markers at 15q15-q21.3.
Genomics 1991;9(2):355-61.
1991: JANICE FINKELSTEIN; K Doege; Y Yamada; Reed E Pyeritz; J M Graham; J B Moeschler; R M Pauli; J T Hecht; Clair A Francomano
Analysis of the chondroitin sulfate proteoglycan core protein (CSPGCP) gene in achondroplasia and pseudoachondroplasia.
American journal of human genetics 1991;48(1):97-102.
1990: J Aryanpur; O Hurko; Clair A Francomano; H Wang; Benjamin S Carson
Craniocervical decompression for cervicomedullary compression in pediatric patients with achondroplasia.
Journal of neurosurgery 1990;73(3):375-82.
1990: JANICE FINKELSTEIN; Clair A Francomano; Saul W Brusilow; M D Traystman
Use of denaturing gradient gel electrophoresis for detection of mutation and prospective diagnosis in late onset ornithine transcarbamylase deficiency.
Genomics 1990;7(2):167-72.
1990: S Blanton; M Sarfarazi; H Eiberg; J de Groote; P A Farndon; Michael W Kilpatrick; A H Child; F Michael Pope; Leena Peltonen; Clair A Francomano
An exclusion map of Marfan syndrome.
Journal of medical genetics 1990;27(2):73-7.
1988: Garry R Cutting; Haig Kazazian ; S E Antonarakis; Paul D Killen; Y Yamada; Clair A Francomano
Macrorestriction mapping of COL4A1 and COL4A2 collagen genes on human chromosome 13q34.
Genomics 1988;3(3):256-63.
1988: Clair A Francomano; Reed E Pyeritz
Achondroplasia is not caused by mutation in the gene for type II collagen.
American journal of medical genetics 1988;29(4):955-61.
1988: Clair A Francomano; Elizabeth A Streeten; Deborah A Meyers; Reed E Pyeritz
Marfan syndrome: exclusion of genetic linkage to three major collagen genes.
American journal of medical genetics 1988;29(2):457-62.
1988: D W Bartholomew; Mark L Batshaw; R H Allen; C R Roe; D Rosenblatt; David Valle; Clair A Francomano
Therapeutic approaches to cobalamin-C methylmalonic acidemia and homocystinuria.
The Journal of pediatrics 1988;112(1):32-9.
1988: Clair A Francomano; R M Liberfarb; T Hirose; Irene H Maumenee; Elizabeth A Streeten; Deborah A Meyers; Reed E Pyeritz
The Stickler syndrome is closely linked to COL2A1, the structural gene for type II collagen.
Pathology and immunopathology research 1988;7(1-2):104-6.
1988: Clair A Francomano; P L Le; Reed E Pyeritz
Molecular genetic studies in achondroplasia.
Basic life sciences 1988;48():53-8.
1987: Paul D Killen; Clair A Francomano; Yoshihiko Yamada; W S Modi; S J O'Brien
Partial structure of the human alpha 2(IV) collagen chain and chromosomal localization of the gene (COL4A2).
Human genetics 1987;77(4):318-24.
1987: Clair A Francomano; R M Liberfarb; T Hirose; Irene H Maumenee; Elizabeth A Streeten; Deborah A Meyers; Reed E Pyeritz
The Stickler syndrome: evidence for close linkage to the structural gene for type II collagen.
Genomics 1987;1(4):293-6.
1987: J T Hecht; Clair A Francomano; W A Horton; J F Annegers
Mortality in achondroplasia.
American journal of human genetics 1987;41(3):454-64.
1986: Clair A Francomano; Haig Kazazian
DNA analysis in genetic disorders.
Annual review of medicine 1986;37():377-95.
1985: A M Nunez; Clair A Francomano; M F Young; G R Martin; Y Yamada
Isolation and partial characterization of genomic clones coding for a human pro-alpha 1 (II) collagen chain and demonstration of restriction fragment length polymorphism at the 3' end of the gene.
Biochemistry 1985;24(23):6343-8.
1981: J E Trojak; S H Polmar; J A Winkelstein; S Hsu; Clair A Francomano; G F Pierce; J J Scillian; A N Gale; Victor A McKusick
Immunologic studies of cartilage-hair hypoplasia in the Amish.
The Johns Hopkins medical journal 1981;148(4):157-64.
1980: J R Cunningham; S M Lippman; W A Renie; Clair A Francomano; Irene H Maumenee; R E Pyeritz
Pseudoxanthoma elasticum: treatment of gastrointestinal hemorrhage by arterial embolization and observations on autosomal dominant inheritance.
The Johns Hopkins medical journal 1980;147(4):168-73.