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1

The EhlersâDanlos syndromes

Malfait, Fransiska, Castori, Marco, Francomano, Clair A., Giunta, Cecilia, Kosho, Tomoki, Byers, Peter H.

Journal:

Nature Reviews Disease Primers

Year:

2020

File:

PDF, 4.53 MB

2020

2

Factors affecting quality of life in children and adolescents with hypermobile Ehlers-Danlos syndrome/hypermobility spectrum disorders

Mu, Weiyi, Muriello, Michael, Clemens, Julia L., Wang, You, Smith, Christy H., Tran, Phuong T., Rowe, Peter C., Francomano, Clair A., Kline, Antonie D., Bodurtha, Joann

Journal:

American Journal of Medical Genetics Part A

Year:

2019

Language:

english

File:

PDF, 1.39 MB

english, 2019

3

Resistance to local anesthesia in people with the Ehlers-Danlos Syndromes presenting for dental surgery

Schubart, Jane R., Schaefer, Eric, Janicki, Piotr, Adhikary, Sanjib D., Schilling, Amber, Hakim, Alan J., Bascom, Rebecca, Francomano, Clair A., Raj, Satish R.

Journal:

Journal of Dental Anesthesia and Pain Medicine

Year:

2019

Language:

english

File:

PDF, 578 KB

english, 2019

4

The 2017 international classification of the Ehlers-Danlos syndromes

Malfait, Fransiska, Francomano, Clair, Byers, Peter, Belmont, John, Berglund, Britta, Black, James, Bloom, Lara, Bowen, Jessica M., Brady, Angela F., Burrows, Nigel P., Castori, Marco, Cohen, Helen, C

Journal:

American Journal of Medical Genetics Part C: Seminars in Medical Genetics

Year:

2017

Language:

english

File:

PDF, 896 KB

english, 2017

5

Pain management in the Ehlers-Danlos syndromes

Chopra, Pradeep, Tinkle, Brad, Hamonet, Claude, Brock, Isabelle, Gompel, Anne, Bulbena, Antonio, Francomano, Clair

Journal:

American Journal of Medical Genetics Part C: Seminars in Medical Genetics

Year:

2017

Language:

english

File:

PDF, 107 KB

english, 2017

6

Prevalence of hypermobile Ehlers-Danlos syndrome in postural orthostatic tachycardia syndrome

Miller, Amanda J., Stiles, Lauren E., Sheehan, Timothy, Bascom, Rebecca, Levy, Howard P., Francomano, Clair A., Arnold, Amy C.

Journal:

Autonomic Neuroscience

Year:

2020

File:

PDF, 613 KB

2020

7

Echocardiographic findings in classical and hypermobile Ehlers–Danlos syndromes

Nazli B. McDonnell, Beverly L. Gorman, Katherine W. Mandel, Shepherd H. Schurman, Alison Assanah-Carroll, Susan A. Mayer, Samer S. Najjar, Clair A. Francomano

Journal:

American Journal of Medical Genetics Part A

Year:

2006

Language:

english

File:

PDF, 195 KB

english, 2006

8

Neurological and spinal manifestations of the Ehlers-Danlos syndromes

Henderson, Fraser C., Austin, Claudiu, Benzel, Edward, Bolognese, Paolo, Ellenbogen, Richard, Francomano, Clair A., Ireton, Candace, Klinge, Petra, Koby, Myles, Long, Donlin, Patel, Sunil, Singman, Er

Journal:

American Journal of Medical Genetics Part C: Seminars in Medical Genetics

Year:

2017

Language:

english

File:

PDF, 2.35 MB

english, 2017

9

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 1

Vajo, Zoltan, Francomano, Clair A., Wilkin, Douglas J.

Journal:

Endocrine Reviews

Year:

2000

Language:

english

File:

PDF, 1.47 MB

english, 2000

10

Arterial Elasticity in Ehlers-Danlos Syndromes

Miller, Amanda J., Schubart, Jane R., Sheehan, Timothy, Bascom, Rebecca, Francomano, Clair A.

Journal:

Year:

2020

File:

PDF, 540 KB

2020

11

Thoracolumbar Spinal Abnormalities in Stickler Syndrome

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

Journal:

Year:

2001

Language:

english

File:

PDF, 984 KB

english, 2001

12

Characteristics, Diagnosis, and Management of Ehlers-Danlos Syndromes

Joseph, Andrew W., Joseph, Shannon S., Francomano, Clair A., Kontis, Theda C.

Journal:

JAMA Facial Plastic Surgery

Year:

2017

Language:

english

File:

PDF, 668 KB

english, 2017

13

The international consortium on the Ehlers-Danlos syndromes

Bloom, Lara, Byers, Peter, Francomano, Clair, Tinkle, Brad, Malfait, Fransiska

Journal:

American Journal of Medical Genetics Part C: Seminars in Medical Genetics

Year:

2017

Language:

english

File:

PDF, 51 KB

english, 2017

14

Pain and sleep quality in children with non-vascular Ehlers-Danlos syndromes

Muriello, Michael, Clemens, Julia L., Mu, Weiyi, Tran, Phuong T., Rowe, Peter C., Smith, Christy H., Francomano, Clair, Bodurtha, Joann, Kline, Antonie D.

Journal:

American Journal of Medical Genetics Part A

Year:

2018

Language:

english

File:

PDF, 1.04 MB

english, 2018

15

Use of prescription opioid and other drugs among a cohort of persons with Ehlers-Danlos syndrome: A retrospective study

Schubart, Jane R., Schilling, Amber, Schaefer, Eric, Bascom, Rebecca, Francomano, Clair

Journal:

American Journal of Medical Genetics Part A

Year:

2019

Language:

english

File:

PDF, 988 KB

english, 2019

16

Ehlers-Danlos syndrome, classical type

Bowen, Jessica M., Sobey, Glenda J., Burrows, Nigel P., Colombi, Marina, Lavallee, Mark E., Malfait, Fransiska, Francomano, Clair A.

Journal:

American Journal of Medical Genetics Part C: Seminars in Medical Genetics

Year:

2017

Language:

english

File:

PDF, 420 KB

english, 2017

17

Klothogene variation and expression in 20 inbred mouse strains

Arsun Bektas, Shepherd H. Schurman, Alexei A. Sharov, Mark G. Carter, Harry C. Dietz, Clair A. Francomano

Journal:

Mammalian Genome

Year:

2004

Language:

english

File:

PDF, 179 KB

english, 2004

18

Mutations in a new gene in Ellis-van Creveld syndrome and Weyers acrodental dysostosis

Ruiz-Perez, Victor L., Ide, Susan E., Strom, Tim M., Lorenz, Bettina, Wilson, David, Woods, Kathryn, King, Lynn, Francomano, Clair, Freisinger, Peter, Spranger, Stephanie

Journal:

Nature Genetics

Year:

2000

Language:

english

File:

PDF, 491 KB

english, 2000

19

Occipito-atlanto-axial Hypermobility : Clinical Features and Dynamic Analysis of Cranial Settling and Posterior Gliding of Occipital Condyle. Part 1 : Findings in Patients with Hereditary Disorders of Connective Tissue and Ehlers-Danlos Syndrome

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

Journal:

Year:

2009

File:

PDF, 1.11 MB

2009

20

Achondropiasia is not caused by mutation in the gene for type II collagen

Dr. Clair A. Francomano, Reed E. Pyeritz, John M. Optiz, James F. Reynolds

Journal:

American Journal of Medical Genetics Part A

Year:

1988

Language:

english

File:

PDF, 368 KB

english, 1988

21

Presymptomatic direct detection of adenomatous polyposis coli (APC) gene mutations in familial adenomatous polyposis

Gloria M. Petersen, Clair Francomano, Ken Kinzler, Yusuke Nakamura

Journal:

Year:

1993

Language:

english

File:

PDF, 534 KB

english, 1993

22

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

23

Progress in medical genetics: Map-based gene discovery and the molecular pathology of skeletal dysplasias

McKusick, Victor A., Amberger, Joanna S., Francomano, Clair A.

Journal:

American Journal of Medical Genetics

Year:

1996

File:

PDF, 739 KB

1996

24

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

25

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

26

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

27

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

28

Association Study of Transforming Growth Factor Alpha (TGFα) TaqI Polymorphismand Oral Clefts: Indication of Gene-Environment Interaction in a Population-based Sample of Infants with Birth Defects

Hwang, Shih-Jen, Beaty, Terri H., Panny, Susan R, Street, Nancy A., Joseph, J. Mehsen, Gordon, Shiela, McIntosh, Iain, Francomano, Clair A.

Journal:

American Journal of Epidemiology

Year:

1995

Language:

english

File:

PDF, 694 KB

english, 1995

29

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

30

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

31

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

32

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

33

Occipito-atlanto-axial Hypermobility : Clinical Features and Dynamic Analysis of Cranial Settling and Posterior Gliding of Occipital Condyle. Part 1 : Findings in Patients with Hereditary Disorders of Connective Tissue and Ehlers-Danlos Syndrome

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

Journal:

Year:

2009

Language:

english

File:

PDF, 1.11 MB

english, 2009

34

Medical genetic studies in the Amish: Historical perspective

Clair A. Francomano, Victor A. McKusick, Leslie G. Biesecker

Journal:

American Journal of Medical Genetics Part C: Seminars in Medical Genetics

Year:

2003

Language:

english

File:

PDF, 71 KB

english, 2003

35

The influence of pulsed low-intensity ultrasound on matrix production of chondrocytes at different stages of differentiation: an explant study

Z.i-Jun Zhang, James Huckle, Clair A Francomano, Richard G.S Spencer

Journal:

Ultrasound in Medicine & Biology

Year:

2002

Language:

english

File:

PDF, 224 KB

english, 2002

36

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

37

Atlanto-axial rotary instability (Fielding type 1): characteristic clinical and radiological findings, and treatment outcomes following alignment, fusion, and stabilization

Henderson, Fraser C., Rosenbaum, Robert, Narayanan, Malini, Koby, Myles, Tuchman, Kelly, Rowe, Peter C., Francomano, Clair

Journal:

Neurosurgical Review

Year:

2020

File:

PDF, 1.50 MB

2020

38

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

39

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

40

Severe hypodontia and oral xanthomas in Alagille syndrome

Nicola C. Ho, Felicitas Lacbawan, Clair A. Francomano, Victor Ho

Journal:

American Journal of Medical Genetics Part A

Year:

2000

Language:

english

File:

PDF, 231 KB

english, 2000

41

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

42

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

43

Clustering of fibrillin (FBN1) missense mutations in Marfan syndrome patients at cysteine residues in EGF-like domains

Harry C. Dietz, Jorge M. Saraiva, Reed E. Pyeritz, Garry R. Cutting, Clair A. Francomano

Journal:

Year:

1992

Language:

english

File:

PDF, 852 KB

english, 1992

44

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

45

A comparison of the Berlin and Ghent nosologies and the influence of dural ectasia in the diagnosis of Marfan syndrome

Rose, Peter S, Levy, Howard P, Ahm, Nicholas U, Sponseller, Paul D, Magyari, Trish, Davis, Joie, Francomano, Clair A

Journal:

Genetics in Medicine

Year:

2000

Language:

english

File:

PDF, 930 KB

english, 2000

46

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

47

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

48

The major mutation in the RMRP gene causing CHH among the Amish is the same as that found in most Finnish cases

Maaret Ridanpää, Pawan Jain, Victor A. Mckusick, Clair A. Francomano, Ilkka Kaitila

Journal:

American Journal of Medical Genetics Part C: Seminars in Medical Genetics

Year:

2003

Language:

english

File:

PDF, 67 KB

english, 2003

49

Partial structure of the human α2(IV) collagen chain and chromosomal localization of the gene (COL4A2)

Paul D. Killen, Clair A. Francomano, Yoshihiko Yamada, William S. Modi, Stephen J. O'Brien

Journal:

Year:

1987

Language:

english

File:

PDF, 1023 KB

english, 1987

50

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

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