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51

The question of heterogeneity in Marfan syndrome

Dietz, Harry, Francke, Uta, Furthmayr, Heinz, Francomano, Clair, Paepe, Anne De, Devereux, Richard, Ramirez, Francesco, Pyeritz, Reed

Journal:

Nature Genetics

Year:

1995

File:

PDF, 228 KB

1995

52

The gene for pycnodysostosis maps to human chromosome 1cen–q21

Polymeropoulos, Mihael H., Ortiz De Luna, Rosa Isela, Ide, Susan E., Torres, Rosarelis, Rubenstein, Jeffrey, Francomano, Clair A.

Journal:

Nature Genetics

Year:

1995

File:

PDF, 179 KB

1995

53

A recurrent mutation in the tyrosine kinase domain of fibroblast growth factor receptor 3 causes hypochondroplasia

Bellus, Gary A., McIntosh, Iain, Smith, E. Anne, Aylsworth, Arthur S., Kaitila, Ilkka, Horton, William A., Greenhaw, Giselle A., Hecht, Jacqueline T., Francomano, Clair A.

Journal:

Nature Genetics

Year:

1995

File:

PDF, 473 KB

1995

54

Mutations in exon 17B of cartilage oligomeric matrix protein (COMP) cause pseudoachondroplasia

Hecht, Jacqueline T., Nelson, Laura D., Crowder, Eric, Wang, Yang, Elder, Frederick F.B., Harrison, Wilbur R., Francomano, Clair A., Prange, Christa K., Lennon, Gregory G., Deere, Michelle

Journal:

Nature Genetics

Year:

1995

File:

PDF, 577 KB

1995

55

A type X collagen mutation causes Schmid metaphyseal chondrodysplasia

Warman, Matthew L., Abbott, Margaret, Apte, Suneel S., Hefferon, Tim, McIntosh, Iain, Cohn, Daniel H., Hecht, Jacqueline T., Olsen, Bjorn R., Francomano, Clair A.

Journal:

Nature Genetics

Year:

1993

File:

PDF, 439 KB

1993

56

Identical mutations in three different fibroblast growth factor receptor genes in autosomal dominant craniosynostosis syndromes

Bellus, Gary A., Gaudenz, Karin, Zackai, Elaine H., Clarke, Lome A., Szabo, Jinny, Francomano, Clair A., Muenke, Maximilian

Journal:

Nature Genetics

Year:

1996

File:

PDF, 426 KB

1996

57

Mutations of CTSK Result in Pycnodysostosis via a Reduction in Cathepsin K Protein

Nicola Ho, Antonello Punturieri, Douglas Wilkin, Jinny Szabo, Maureen Johnson, Justine Whaley, Joie Davis, Alison Clark, Stephen Weiss, Clair Francomano

Journal:

Journal of Bone and Mineral Research

Year:

1999

Language:

english

File:

PDF, 2.45 MB

english, 1999

58

A Skeletal Gene Database

Nicola C. Ho, Libin Jia, Catherine C. Driscoll, Emily M. Gutter, Clair A. Francomano, Marc K. Drezner

Journal:

Journal of Bone and Mineral Research

Year:

2000

Language:

english

File:

PDF, 88 KB

english, 2000

59

Clinico-pathogenetic findings and management of chondrodystrophic myotonia (Schwartz-Jampel syndrome): a case report

Nicola C Ho, Stacey Sandusky, Victor Madike, Clair A Francomano, Marinos C Dalakas

Journal:

Year:

2003

Language:

english

File:

PDF, 314 KB

english, 2003

60

Four Novel FBN1 Mutations: Significance for Mutant Transcript Level and EGF-like Domain Calcium Binding in the Pathogenesis of Marfan Syndrome

Harry C. Dietz, Iain McIntosh, Lynn Y. Sakai, Glen M. Corson, Stephen C. Chalberg, Reed E. Pyeritz, Clair A. Francomano

Journal:

Year:

1993

File:

PDF, 698 KB

1993

61

High-Resolution Genetic Mapping of the Cartilage-Hair Hypoplasia (CHH) Gene in Amish and Finnish Families

Tuija Sulisalo, Clair A. Francomano, Pertti Sistonen, Joseph F. Maher, Victor A. McKusick, Albert de la Chapelle, Ilkka Kaitila

Journal:

Year:

1994

File:

PDF, 414 KB

1994

62

Localization of the Gene (SYM1) for Proximal Symphalangism to Human Chromosome 17q21-q22

Mihael H. Polymeropoulos, Jamie Poush, Jeffrey R. Rubenstein, Clair A. Francomano

Journal:

Year:

1995

File:

PDF, 218 KB

1995

63

The Gene for the Ellis–van Creveld Syndrome Is Located on Chromosome 4p16

Mihael H. Polymeropoulos, Susan E. Ide, Michael Wright, Judith Goodship, Jean Weissenbach, Reed E. Pyeritz, Elias O. Da Silva, Rosa Isela Ortiz De Luna, Clair A. Francomano

Journal:

Year:

1996

Language:

english

File:

PDF, 114 KB

english, 1996

64

Brachydactyly Type C Gene Maps to Human Chromosome 12q24

Mihael H. Polymeropoulos, Susan E. Ide, Trish Magyari, Clair A. Francomano

Journal:

Year:

1996

Language:

english

File:

PDF, 746 KB

english, 1996

65

Characterization of the Human Talin (TLN) Gene: Genomic Structure, Chromosomal Localization, and Expression Pattern

Tamar Ben-Yosef, Clair A. Francomano

Journal:

Year:

1999

Language:

english

File:

PDF, 109 KB

english, 1999

66

Characterization of a Human Gene Encoding Nucleosomal Binding Protein NSBP1

Lynn Mertens King, Clair A. Francomano

Journal:

Year:

2001

Language:

english

File:

PDF, 355 KB

english, 2001

67

Gene Expression Profile of Human Bone Marrow Stromal Cells: High-Throughput Expressed Sequence Tag Sequencing Analysis

Libin Jia, Marian F. Young, John Powell, Liming Yang, Nicola C. Ho, Robert Hotchkiss, Pamela Gehron Robey, Clair A. Francomano

Journal:

Year:

2002

Language:

english

File:

PDF, 166 KB

english, 2002

68

Mutations in the fibrillin gene and variability of the Marfan syndrome

Harry C Dietz, Reed E Pyeritz, Garry R Cutting, Clair A Francomano

Journal:

Journal of Molecular and Cellular Cardiology

Year:

1992

Language:

english

File:

PDF, 117 KB

english, 1992

69

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

Daniel S. Greenspan, Hope Northrup, Kit-Sing Au, Kimberly A. McAllister, Clair A. Francomano, Richard J. Wenstrup, Douglas A. Marchuk, David J. Kwiatkowski

Journal:

Year:

1995

Language:

english

File:

PDF, 315 KB

english, 1995

70

Association of Chiari malformation type I and tethered cord syndrome: preliminary results of sectioning filum terminale

Thomas H. Milhorat, Paolo A. Bolognese, Misao Nishikawa, Clair A. Francomano, Nazli B. McDonnell, Chan Roonprapunt, Roger W. Kula

Journal:

Surgical Neurology

Year:

2009

Language:

english

File:

PDF, 624 KB

english, 2009

71

Minocycline-induced generalized postinflammatory elastolysis

Nicola C Ho, Aideen McInerney, Howard Levy, Clair A Francomano, Ori Elkayam

Journal:

The American Journal of Medicine

Year:

2000

Language:

english

File:

PDF, 85 KB

english, 2000

72

Dextromethorphan and high-dose benzoate therapy for nonketotic hyperglycinemia in an infant

Ada Hamosh, John W. McDonald, David Valle, Clair A. Francomano, Ernst Niedermeyer, Michael V. Johnston

Journal:

The Journal of Pediatrics

Year:

1992

Language:

english

File:

PDF, 413 KB

english, 1992

73

Sleep-disordered breathing in children with achondroplasia

Peter J. Mogayzel Jr., John L. Carroll, Gerald M. Loughlin, Orest Hurko, Clair A. Francomano, Carole L. Marcus

Journal:

The Journal of Pediatrics

Year:

1998

Language:

english

File:

PDF, 131 KB

english, 1998

74

Linkage of typical pseudoachondroplasia to chromosome 19

Jacqueline T. Hecht, Clair A. Francomano, Michael D. Briggs, Michelle Deere, Barbara Conner, William A. Horton, Matthew Warman, Daniel H. Cohn, Susan Halloran Blanton

Journal:

Year:

1993

Language:

english

File:

PDF, 458 KB

english, 1993

75

Characterization of the human extracellular matrix protein 1 gene on chromosome 1q21

Maureen R. Johnson, Douglas J. Wilkin, Hans L. Vos, Rosa Isela Ortiz De Luna, Anindya M. Dehejia, Mihael H. Polymeropoulos, Clair A. Francomano

Journal:

Year:

1997

Language:

english

File:

PDF, 329 KB

english, 1997

76

Bone dysplasias in man: molecular insights

Clair A Francomano, Iain McIntosh, Douglas J Wilkin

Journal:

Current Opinion in Genetics & Development

Year:

1996

Language:

english

File:

PDF, 702 KB

english, 1996

77

Recommendations for national and local regulatory authorities concerning research in genetic markers of disease

Christopher B. Granger, Bernard Keavney, Clair Francomano, Gunnar Olsson, Salim Yusuf

Journal:

American Heart Journal

Year:

2000

Language:

english

File:

PDF, 58 KB

english, 2000

78

Mutations in Fibroblast Growth-Factor Receptor 3 in Sporadic Cases of Achondroplasia Occur Exclusively on the Paternally Derived Chromosome

Douglas J. Wilkin, Jinny K. Szabo, Rhoda Cameron, Shirley Henderson, Gary A. Bellus, Michelle L. Mack, Ilkka Kaitila, John Loughlin, Arnold Munnich, Bryan Sykes, Jacky Bonaventure, Clair A. Francomano

Journal:

The American Journal of Human Genetics

Year:

1998

Language:

english

File:

PDF, 601 KB

english, 1998

79

Multiple Molecular Mechanisms Underlying Subdiagnostic Variants of Marfan Syndrome

Robert A. Montgomery, Michael T. Geraghty, Evelyn Bull, Bruce D. Gelb, Maureen Johnson, Iain McIntosh, Clair A. Francomano, Harry C. Dietz

Journal:

The American Journal of Human Genetics

Year:

1998

Language:

english

File:

PDF, 443 KB

english, 1998

80

A Novel Nemaline Myopathy in the Amish Caused by a Mutation in Troponin T1

Jennifer J. Johnston, Richard I. Kelley, Thomas O. Crawford, D. Holmes Morton, Richa Agarwala, Thorsten Koch, Alejandro A. Schäffer, Clair A. Francomano, Leslie G. Biesecker

Journal:

The American Journal of Human Genetics

Year:

2000

Language:

english

File:

PDF, 921 KB

english, 2000

81

Structural and Functional Mutations of the Perlecan Gene Cause Schwartz-Jampel Syndrome, with Myotonic Myopathy and Chondrodysplasia

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, Su

Journal:

The American Journal of Human Genetics

Year:

2002

Language:

english

File:

PDF, 783 KB

english, 2002

82

Therapeutic approaches to cobalamin-C methylmalonic acidemia and homocystinuria

Dennis W. Bartholomew, Mark L. Batshaw, Robert H. Allen, Charles R. Roe, David Rosenblatt, David L. Valle, Clair A. Francomano

Journal:

The Journal of Pediatrics

Year:

1988

Language:

english

File:

PDF, 598 KB

english, 1988

83

Hypochondroplasia: Molecular Analysis of the Fibroblast Growth Factor Receptor 3 Gene

Gary A. Bellus, Iain Mcintosh, Jinny Szabo, Arthur Aylsworth, Ilkka Kaitila, Clair A. Francomano

Journal:

Annals of the New York Academy of Sciences

Year:

1996

Language:

english

File:

PDF, 408 KB

english, 1996

84

Use of denaturing gradient gel electrophoresis for detection of mutation and prospective diagnosis in late onset ornithine transcarbamylase deficiency

Finkelstein, Janice E., Francomano, Clair A., Brusilow, Saul W., Traystman, Monica D.

Journal:

Year:

1990

Language:

english

File:

PDF, 1.53 MB

english, 1990

85

The Marfan syndrome locus: Confirmation of assignment to chromosome 15 and identification of tightly linked markers at 15q15-q21.3

Dietz, Harry C., Pyeritz, Reed E., Hall, Bryan D., Cadle, Ronald G., Hamosh, Ada, Schwartz, John, Meyers, Deborah A., Francomano, Clair A.

Journal:

Year:

1991

Language:

english

File:

PDF, 824 KB

english, 1991

86

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

Nunez, Anne Marie, Francomano, Clair, Young, Marian F., Martin, George R., Yamada, Yoshihiko

Journal:

Year:

1985

Language:

english

File:

PDF, 1.95 MB

english, 1985

87

Complementary Medicine and Genetic Medicine: Polar Disciplines or Dynamic Partners?

Geller, Gail, Francomano, Clair A.

Journal:

Journal of Alternative and Complementary Medicine

Year:

2005

Language:

english

File:

PDF, 58 KB

english, 2005

88

Identification of a Mutation in the Gene Encoding the α Subunit of the Stimulatory G Protein of Adenylyl Cyclase in McCune-Albright Syndrome

William F. Schwindinger, Clair A. Francomano and Michael A. Levine

Journal:

Proceedings of the National Academy of Sciences

Year:

1992

Language:

english

File:

PDF, 1.11 MB

english, 1992

89

The Genetic Basis of Dwarfism

Francomano, Clair A.

Journal:

Boston Medical and Surgical Journal

Year:

1995

Language:

english

File:

PDF, 155 KB

english, 1995

90

The status of online Mendelian inheritance in man (OMIM) medio 1994

Pearson, Peter, Francomano, Clair, Foster, Patricia, Bocchini, Carol, Li, Peter, McKusick, Victor

Journal:

Nucleic Acids Research

Year:

1994

Language:

english

File:

PDF, 1.55 MB

english, 1994

91

Additional mutations of type X collagen confirm COL10A1 as the Schmid metaphyseal chondrodysplasia locus

Mcintosh, Ialn, Abbott, Margaret H., Warman, Matthew L., Olsen, Biorn R., Francomano, Clair A.

Journal:

Human Molecular Genetics

Year:

1994

Language:

english

File:

PDF, 2.83 MB

english, 1994

92

Substitution of a cysteine residue in a non-calcium binding, EGF-like domain of fibrillin segregates with the Marfan syndrome in a large kindred

Piersall, Linda D., Dietz, Harry C., Hall, Bryan D., Cadle, Ronald G., Pyeritz, Reed E., Francomano, Clair A., McIntosh, Iain

Journal:

Human Molecular Genetics

Year:

1994

Language:

english

File:

PDF, 2.06 MB

english, 1994

93

Craniocervical decompression for cervicomedullary compression in pediatric patients with achondroplasia

Aryanpur, John, Hurko, Orest, Francomano, Clair, Wang, Henry, Carson, Benjamin

Journal:

Journal of Neurosurgery

Year:

1990

Language:

english

File:

PDF, 1.37 MB

english, 1990

94

Syndrome of occipitoatlantoaxial hypermobility, cranial settling, and Chiari malformation Type I in patients with hereditary disorders of connective tissue

Milhorat, Thomas H., Bolognese, Paolo A., Nishikawa, Misao, McDonnell, Nazli B., Francomano, Clair A.

Journal:

Journal of Neurosurgery Spine

Year:

2007

Language:

english

File:

PDF, 716 KB

english, 2007

95

Molecular Genetic Analysis in Autosomal Dominant Keratoconus

Rabinowitz, Yaron S., Maumenee, Irene H., Lundergan, Maureen K., Puffenberger, Erik, Zhu, Danping, Antonarakis, Stelianos, Francomano, Clair A.

Journal:

Year:

1992

File:

PDF, 555 KB

1992

96

The Hip in Stickler Syndrome

Rose, Peter S., Ahn, Nicholas U., Levy, Howard P., Magid, Donna, Davis, Joie, Liberfarb, Ruth M., Sponseller, Paul D., Francomano, Clair A.

Journal:

Journal of Pediatric Orthopaedics

Year:

2001

Language:

english

File:

PDF, 1.37 MB

english, 2001

97

10.1097/00004694-200109000-00020

Rose, Peter, Ahn, Nicholas, Levy, Howard, Magid, Donna, Davis, Joie, Liberfarb, Ruth, Sponseller, Paul, Francomano, Clair

Journal:

Journal of Pediatric Orthopaedics

Year:

2001

Language:

english

File:

PDF, 1.37 MB

english, 2001

98

The Stickler syndrome: Genotype/phenotype correlation in 10 families with Stickler syndrome resulting from seven mutations in the type II collagen gene locus COL2A1

Liberfarb, Ruth M, Levy, Howard P, Rose, Peter S, Wilkin, Douglas J, Davis, Joie, Balog, Joan Z, Griffith, Andrew J, Szymko-Bennett, Yvonne M, Johnston, Jennifer J, Francomano, Clair A

Journal:

Genetics in Medicine

Year:

2003

Language:

english

File:

PDF, 306 KB

english, 2003

99

Case 47: Dural Ectasia Associated with Marfan Syndrome

Ho, Nicola C., Hadley, Donald W., Jain, Pawan K., Francomano, Clair A.

Journal:

Year:

2002

Language:

english

File:

PDF, 231 KB

english, 2002

100

Prevalence of aortic root dilation in the Ehlers-Danlos syndrome

Wenstrup, Richard J, Meyer, Richard A, Lyle, Jennifer S, Hoechstetter, Leah, Rose, Peter S, Levy, Howard P, Francomano, Claire A

Journal:

Genetics in Medicine

Year:

2002

Language:

english

File:

PDF, 925 KB

english, 2002