C. Francomano

J. Hodson, R. Steeds, T. Barrett, 2018, Nephrology, dialysis, transplantation : official publication of the European Dialysis and Transplant Association - European Renal Association.

A case–control study of respiratory medication and co‐occurring gastrointestinal prescription burden among persons with Ehlers–Danlos syndromes

C. Francomano, R. Bascom, J. Schubart, 2021, American journal of medical genetics. Part C, Seminars in medical genetics.

Prevalence of aortic root dilation in the Ehlers-Danlos syndrome

P. Rose, R. Wenstrup, C. Francomano, 2002, Genetics in Medicine.

Echocardiographic findings in classical and hypermobile Ehlers–Danlos syndromes

S. Najjar, N. McDonnell, S. Schurman, 2006, American journal of medical genetics. Part A.

Marfan syndrome: no evidence for heterogeneity in different populations, and more precise mapping of the gene.

H. Dietz, R. Pyeritz, A. Child, 1991, American journal of human genetics.

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

Joie Davis, P. Rose, P. Sponseller, 2000, Genetics in Medicine.

Distinct missense mutations of the FGFR3 lys650 codon modulate receptor kinase activation and the severity of the skeletal dysplasia phenotype.

S. Rosengren, D. Donoghue, G. Bellus, 2000, American journal of human genetics.

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

I. Kaitila, A. Aylsworth, G. Bellus, 1995, Nature Genetics.

Klotho gene variation and expression in 20 inbred mouse strains

A. Sharov, H. Dietz, M. G. Carter, 2004, Mammalian Genome.

Living with achondroplasia: Quality of life evaluation following cervico‐medullary decompression

B. Carson, L. Brant, C. Francomano, 2004, American journal of medical genetics. Part A.

A type X collagen mutation causes Schmid metaphyseal chondrodysplasia

B. Olsen, M. Warman, T. Hefferon, 1993, Nature Genetics.

Macrorestriction mapping of COL4A1 and COL4A2 collagen genes on human chromosome 13q34.

S. Antonarakis, G. Cutting, Y. Yamada, 1988, Genomics.

A novel skeletal dysplasia with developmental delay and acanthosis nigricans is caused by a Lys650Met mutation in the fibroblast growth factor receptor 3 gene.

D. Donoghue, M. Bamshad, E. Jabs, 1999, American journal of human genetics.

The 2017 international classification of the Ehlers–Danlos syndromes

J. Belmont, P. Byers, R. Grahame, 2017, American journal of medical genetics. Part C, Seminars in medical genetics.

Bone dysplasias in man: molecular insights.

D. Wilkin, C. Francomano, C. Francomano, 1996, Current opinion in genetics & development.

The mutational spectrum of brachydactyly type C.

L. Singh, J. Graham, W. Newman, 2002, American journal of medical genetics.

Genetic and physical mapping of the McKusick-Kaufman syndrome.

A A Schäffer, J. Weber, R. Agarwala, 1998, Human molecular genetics.

A novel nemaline myopathy in the Amish caused by a mutation in troponin T1.

A A Schäffer, D H Morton, R. Agarwala, 2000, American journal of human genetics.

Fine mapping of the nail-patella syndrome locus at 9q34.

A. Schäffer, E. Puffenberger, D. Kwiatkowski, 1997, American journal of human genetics.

Gastrointestinal medication burden among persons with the Ehlers‐Danlos syndromes

C. Francomano, R. Bascom, J. Schubart, 2021, Neurogastroenterology and motility : the official journal of the European Gastrointestinal Motility Society.

Pseudoxanthoma elasticum: treatment of gastrointestinal hemorrhage by arterial embolization and observations on autosomal dominant inheritance.

S. Lippman, R. Pyeritz, C. Francomano, 1980, The Johns Hopkins medical journal.

A unique point mutation in the fibroblast growth factor receptor 3 gene (FGFR3) defines a new craniosynostosis syndrome.

E. Haan, R. Markowitz, A. Guttmacher, 1997, American journal of human genetics.

Identification of a mutation in liver glycogen phosphorylase in glycogen storage disease type VI.

L. Biesecker, C. Francomano, S. Chang, 1998, Human molecular genetics.

Confirmatory linkage of hypochondroplasia to chromosome arm 4p.

S. Blanton, G. Bellus, J. Hecht, 1995, American journal of medical genetics.

Clinical and biochemical proﬁles suggest ﬁbromuscular dysplasia is a systemic disease with altered TGF- (cid:2) expression and connective tissue features

D. Milewicz, H. Dietz, S. Ganesh, 2014 .

Localization of the gene (SYM1) for proximal symphalangism to human chromosome 17q21-q22.

M. Polymeropoulos, J. Rubenstein, C. Francomano, 1995, Genomics.

Identification of nine novel mutations in cartilage oligomeric matrix protein in patients with pseudoachondroplasia and multiple epiphyseal dysplasia.

K. Daniels, J. Hecht, C. Francomano, 1999, American journal of medical genetics.

Genetic heterogeneity in families with hereditary multiple exostoses.

G. Schellenberg, E. Wijsman, E. Puffenberger, 1993, American journal of human genetics.

The COL6A1 and COL6A2 genes exist as a gene cluster and detect highly informative DNA polymorphisms in the telomeric region of human chromosome 21q

S. Antonarakis, R. Timpl, G. Cutting, 1991, Human Genetics.

Syndrome of occipitoatlantoaxial hypermobility, cranial settling, and chiari malformation type I in patients with hereditary disorders of connective tissue.

P. Bolognese, T. Milhorat, N. McDonnell, 2007, Journal of neurosurgery. Spine.

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

Joie Davis, M. Johnson, D. Wilkin, 1999, Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral Research.

STICKLER SYNDROME

C. Francomano, M. Sheppard, 2020, Cassidy and Allanson's Management of Genetic Syndromes.

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

C. Prange, G. Lennon, J. Lawler, 1995, Nature Genetics.

Jeune asphyxiating thoracic dystrophy and short-rib polydactyly type III (Verma-Naumoff) are variants of the same disorder.

M. V. Van Allen, C. Francomano, N. Ho, 2000, American journal of medical genetics.

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

S. Raj, C. Francomano, E. Schaefer, 2019, Journal of dental anesthesia and pain medicine.

Auditory dysfunction in Stickler syndrome.

A. Griffith, L. Shotland, F. Ondrey, 2001, Archives of otolaryngology--head & neck surgery.

Patient-Reported Outcomes Following Sectioning of the Filum Terminale for Treatment of Tethered Cord Syndrome Associated With Ehlers-Danlos Syndrome

F. Henderson, C. Francomano, K. Tuchman, 2022, Cureus.

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

C. Francomano, E. Schaefer, R. Bascom, 2019, American journal of medical genetics. Part A.

Characteristics, Diagnosis, and Management of Ehlers-Danlos Syndromes: A Review

C. Francomano, T. Kontis, Andrew W Joseph, 2017, JAMA facial plastic surgery.

The international consortium on the Ehlers–Danlos syndromes

P. Byers, B. Tinkle, C. Francomano, 2017, American journal of medical genetics. Part C, Seminars in medical genetics.

Marfan syndrome caused by a recurrent de novo missense mutation in the fibrillin gene

Ada Hamosh, Reed E. Pyeritz, E. Puffenberger, 1991, Nature.

Chiari I Malformations and the Heritable Disorders of Connective Tissue.

C. Francomano, Meghan Ellington, 2023, Neurosurgery clinics of North America.

Concentration of mutations causing schmid metaphyseal chondrodysplasia in the C‐terminal noncollagenous domain of type X collagen

M. Abbott, C. Francomano, I. Mcintosh, 1995, Human mutation.

Physical mapping of the nail patella syndrome interval at 9q34: ordering of STSs and ESTs

M. K. McCormick, K. Scott, J. Richards, 1998, Human Genetics.

Key role for a minor collagen

C. Francomano, 1995, Nature Genetics.

Genetics in Clinical Practice: New Directions for Nursing and Health Care

C. Francomano, J. Jenkins, D. Lea, 1998 .

Rapid determination of COL2A1 mutations in individuals with Stickler syndrome: analysis of potential premature termination codons.

W. Cole, D. Wilkin, D. Cohn, 2000, American journal of medical genetics.

Hereditary alpha-tryptasemia modifies clinical phenotypes among individuals with congenital hypermobility disorders

J. Lyons, J. Milner, M. Ritelli, 2022, HGG advances.

Analysis of the chondroitin sulfate proteoglycan core protein (CSPGCP) gene in achondroplasia and pseudoachondroplasia.

J. Graham, R. Pyeritz, R. Pauli, 1991, American journal of human genetics.

Approaches to the Diagnosis of Renal Genetic Disorders Using DNA Analysis

S. Antonarakis, C. Francomano, 1990 .

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

R. Pyeritz, C. Francomano, 1988 .

Neurological and spinal manifestations of the Ehlers–Danlos syndromes

D. Long, E. Benzel, P. Klinge, 2017, American journal of medical genetics. Part C, Seminars in medical genetics.

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

F. Henderson, C. Francomano, M. Koby, 2020, Neurosurgical Review.

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.

Z. Vajo, D. Wilkin, C. Francomano, 2000, Endocrine reviews.

Victor A. McKusick and Medical Genetics Among the Amish

C. Francomano, 2012 .

Therapeutic approaches to cobalamin-C methylmalonic acidemia and homocystinuria.

C. Roe, C. Francomano, D. Rosenblatt, 1988, The Journal of pediatrics.

Achondroplasia is defined by recurrent G380R mutations of FGFR3.

I. Kaitila, T. Hefferon, G. Bellus, 1995, American journal of human genetics.

Respiratory manifestations in the Ehlers–Danlos syndromes

C. Francomano, R. Bascom, R. Dhingra, 2021, American journal of medical genetics. Part C, Seminars in medical genetics.

The Ehlers–Danlos syndromes

P. Byers, M. Castori, C. Francomano, 2020, Nature Reviews Disease Primers.

Mutation analysis of LMX1B gene in nail-patella syndrome patients.

I. Kaitila, A. Winterpacht, Brendan H. Lee, 1998, American journal of human genetics.

Craniocervical decompression for cervicomedullary compression in pediatric patients with achondroplasia.

B. Carson, C. Francomano, O. Hurko, 1990, Journal of neurosurgery.

Molecular Genetic Analysis in Autosomal Dominant Keratoconus

E. Puffenberger, Y. Rabinowitz, C. Francomano, 1992, Cornea.

Survey of Ehlers‒Danlos Patients’ ophthalmic surgery experiences

Michael V. Boland, K. Bower, C. Francomano, 2020, Molecular genetics & genomic medicine.

Victor McKusick and the History of Medical Genetics

V. McKusick, C. Francomano, K. Dronamraju, 2012, Springer New York.

Medical genetic studies in the Amish: Historical perspective

L. Biesecker, V. McKusick, C. Francomano, 2003, American journal of medical genetics. Part C, Seminars in medical genetics.

Small deletions in the type II collagen triple helix produce kniest dysplasia.

V A McKusick, S. South, V. McKusick, 1999, American journal of medical genetics.

A study of linkage and association of body mass index in the old order Amish

E. Pugh, G. Papanicolaou, M. Roy-Gagnon, 2003, American journal of medical genetics. Part C, Seminars in medical genetics.

Diagnostic approaches to renal genetic disorders using DNA analysis

C. Francomano, 2004, Pediatric Nephrology.

Marfan phenotype variability in a family segregating a missense mutation in the epidermal growth factor-like motif of the fibrillin gene.

E. Puffenberger, H. Dietz, R. Pyeritz, 1992, The Journal of clinical investigation.

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.

M. Karayiorgou, G. Nestadt, H. Kazazian, 1994, American journal of medical genetics.

High-resolution linkage-disequilibrium mapping of the cartilage-hair hypoplasia gene.

O. Mäkitie, I. Kaitila, A. de la Chapelle, 1994, American journal of human genetics.

Dr. Victor A. McKusick and the Genetics of Dwarfism

D. Rimoin, C. Francomano, 2012 .

Stickler syndrome: Clinical characteristics and diagnostic criteria

Joie Davis, A. Griffith, P. Rose, 2005, American journal of medical genetics. Part A.

Comparison of gene expression profile between human chondrons and chondrocytes: a cDNA microarray study.

K. Becker, G. Lee, C. Francomano, 2006, Osteoarthritis and cartilage.

Gene expression profile of human bone marrow stromal cells: high-throughput expressed sequence tag sequencing analysis.

J. Powell, Liming Yang, L. Jia, 2002, Genomics.

A neonatal lethal mutation in FGFR3 uncouples proliferation and differentiation of growth plate chondrocytes in embryos.

C. Deng, R. Behringer, Lin Chen, 2000, Human molecular genetics.

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

M. Ridanpää, I. Kaitila, V. McKusick, 2003, American journal of medical genetics. Part C, Seminars in medical genetics.

Bi-allelic Alterations in AEBP1 Lead to Defective Collagen Assembly and Connective Tissue Structure Resulting in a Variant of Ehlers-Danlos Syndrome.

J. Parisi, F. Alkuraya, N. McDonnell, 2018, American journal of human genetics.

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

Yusuke Nakamura, K. Kinzler, G. Petersen, 1993, Human Genetics.

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

A. Hamosh, H. Dietz, D. Meyers, 1991, Genomics.

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

M. Dalakas, C. Francomano, V. Madike, 2003, BMC neurology.

Fifteen novel FBN1 mutations causing Marfan syndrome detected by heteroduplex analysis of genomic amplicons.

R E Pyeritz, H. Dietz, R. Pyeritz, 1995, American journal of human genetics.

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

E. Zackai, M. Muenke, G. Bellus, 1996, Nature Genetics.

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

M. Polymeropoulos, T. Meitinger, T. Strom, 2000, Nature Genetics.

Latest developments in skeletal dysplasias

C. Francomano, N. Ho, 2001 .

Clinical and biochemical profiles suggest fibromuscular dysplasia is a systemic disease with altered TGF‐β expression and connective tissue features

D. Milewicz, H. Dietz, S. Ganesh, 2014, FASEB journal : official publication of the Federation of American Societies for Experimental Biology.

A central nervous system specific mouse model for thanatophoric dysplasia type II.

K. Fishbein, R. Spencer, M. Rao, 2003, Human molecular genetics.

Highly activated Fgfr3 with the K644M mutation causes prolonged survival in severe dwarf mice.

C. Deng, C. Francomano, C. Li, 2001, Human molecular genetics.

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

B. Olsen, M. Warman, M. Abbott, 1994, Human molecular genetics.

Four novel FBN1 mutations: significance for mutant transcript level and EGF-like domain calcium binding in the pathogenesis of Marfan syndrome.

H. Dietz, R. Pyeritz, L. Sakai, 1993, Genomics.

DNA analysis in genetic disorders.

H. Kazazian, C. Francomano, 1986, Annual review of medicine.

Localization of the achondroplasia gene to the distal 2.5 Mb of human chromosome 4p.

D. Meyers, S. Blanton, J. Murray, 1994, Human molecular genetics.

Use of Cluster Analysis to Delineate Symptom Profiles in Ehlers-Danlos Syndrome Patient Population.

C. Francomano, E. Schaefer, R. Bascom, 2019, Journal of pain and symptom management.

Pain management in the Ehlers–Danlos syndromes

A. Bulbena, B. Tinkle, A. Gompel, 2017, American journal of medical genetics. Part C, Seminars in medical genetics.

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

Amy C. Arnold, C. Francomano, H. Levy, 2020, Autonomic Neuroscience.

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

J. Johnston, Joie Davis, A. Griffith, 2003, Genetics in Medicine.

Thoracolumbar Spinal Abnormalities in Stickler Syndrome

L. Nallamshetty, Joie Davis, U. Ahn, 2001, Spine.

Patients with Ehlers–Danlos syndrome on the diagnostic odyssey: Rethinking complexity and difficulty as a hero's journey

E. Clayton, C. Francomano, C. Halverson, 2021, American journal of medical genetics. Part C, Seminars in medical genetics.

The genetic basis of dwarfism.

C. Francomano, 1995, The New England journal of medicine.

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

A. Hamosh, M. Johnston, J. Mcdonald, 1992, The Journal of pediatrics.

Brachydactyly type C gene maps to human chromsome 12q24.

M. Polymeropoulos, S. Ide, C. Francomano, 1996, Genomics.

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

S. O’Brien, W. Modi, Yoshihiko Yamada, 1987, Human Genetics.

High-resolution genetic mapping of the cartilage-hair hypoplasia (CHH) gene in Amish and Finnish families.

I. Kaitila, A. de la Chapelle, V. McKusick, 1994, Genomics.

Immunologic studies of cartilage-hair hypoplasia in the Amish.

V. McKusick, J. Winkelstein, C. Francomano, 1981, The Johns Hopkins medical journal.

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.

M. Bamshad, E. Jabs, J. Dorst, 1999, American journal of medical genetics.

Fibroblast Growth Factor Receptor-Related Skeletal Disorders

E. Jabs, M. Muenke, M. Cohen, 1998 .

An exclusion map of Marfan syndrome.

L. Peltonen, J. de Groote, H. Eiberg, 1990, Journal of medical genetics.

Marfan syndrome: exclusion of genetic linkage to three major collagen genes.

D. Meyers, R. Pyeritz, E. Streeten, 1988, American journal of medical genetics.

Mutations in fibroblast growth-factor receptor 3 in sporadic cases of achondroplasia occur exclusively on the paternally derived chromosome.

A. Munnich, I. Kaitila, B. Sykes, 1998, American journal of human genetics.

Multiple molecular mechanisms underlying subdiagnostic variants of Marfan syndrome.

H. Dietz, B. Gelb, R. Montgomery, 1998, American journal of human genetics.

Atopy and bronchial hyperresponsiveness: exclusion of linkage to markers on chromosomes 11q and 6p

D. Postma, D. Meyers, C. Francomano, 1992, Clinical and experimental allergy : journal of the British Society for Allergy and Clinical Immunology.

We reported the clinical features of patients with hereditary disorders of connective tissue(HDCT) and Ehlers-Danlos syndromes(EDS)and a subset of patients with HDCT・EDS in which varying degrees of craniocer-

T. Milhorat, C. Francomano, 2016 .

Refractory Syncope and Pre-syncope Associated with Atlanto-axial Instability: Preliminary Evidence of Improvement Following Surgical Stabilization.

F. Henderson, C. Francomano, M. Koby, 2021, World neurosurgery.

Hyaline cartilage engineered by chondrocytes in pellet culture: histological, immunohistochemical and ultrastructural analysis in comparison with cartilage explants

R. Spencer, J. McCaffery, C. Francomano, 2004, Journal of anatomy.

Consensus clinical management guidelines for Alström syndrome

M. Gunay‐Aygun, H. Dollfus, R. Steeds, 2020, Orphanet Journal of Rare Diseases.

The Stickler syndrome: evidence for close linkage to the structural gene for type II collagen.

T. Hirose, D. Meyers, R. Pyeritz, 1987, Genomics.

The Hip in Stickler Syndrome

D. Magid, Joie Davis, N. Ahn, 2001, Journal of pediatric orthopedics.

Proposed diagnostic criteria for Stickler syndrome

J. Johnston, Joie Davis, A. Griffith, 2000 .

The Stickler syndrome is closely linked to COL2A1, the structural gene for type II collagen.

T. Hirose, D. Meyers, R. Pyeritz, 1988, Pathology and immunopathology research.

Minocycline-induced generalized postinflammatory elastolysis.

C. Francomano, O. Elkayam, H. Levy, 2000, The American journal of medicine.

Novel mtDNA Imparts the Connective Tissue Disorder of a Tourette Pedigree

D. Wallace, M. Lott, Kierstin N Keller, 2022, bioRxiv.

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

R. Spencer, C. Francomano, James Huckle, 2002, Ultrasound in medicine & biology.

Career development for women in academic medicine: Multiple interventions in a department of medicine.

L. Fried, K. Carbone, C. Francomano, 1996, JAMA.

Combination of common mtDNA variants results in mitochondrial dysfunction and a connective tissue dysregulation

D. Murdock, D. Wallace, M. Lott, 2022, Proceedings of the National Academy of Sciences of the United States of America.

Victor Almon McKusick: In the footsteps of Mendel and Osler

C. Francomano, 2021, American journal of medical genetics. Part A.

Postural tachycardia syndrome and other forms of orthostatic intolerance in Ehlers-Danlos syndrome

C. Francomano, Colleen L. Marden, P. Rowe, 2018, Autonomic Neuroscience.

Clinician-associated traumatization from difficult medical encounters: Results from a qualitative interview study on the Ehlers-Danlos Syndromes

C. Francomano, C. Halverson, Heather L. Penwell, 2023, SSM. Qualitative research in health.

Initial description and evaluation of EDS ECHO: An international effort to improve care for people with the Ehlers‐Danlos syndromes and hypermobility spectrum disorders

C. Francomano, R. Bascom, A. Hakim, 2021, American journal of medical genetics. Part C, Seminars in medical genetics.

P084 EDS ECHO: virtual case based learning in the assessment and management of Ehlers-Danlos syndrome and hypermobility spectrum disorders

C. Francomano, R. Bascom, A. Hakim, 2021 .

Conservation of the Caenorhabditis elegans timing gene clk-1 from yeast to human: a gene required for ubiquinone biosynthesis with potential implications for aging

A. Munnich, Z. Vajo, C. Clarke, 1999, Mammalian Genome.

Exclusion of human proteoglycan link protein (CRTL1) and type II collagen (COL2A1) genes in pseudoachondroplasia.

S. Daiger, S. Blanton, J. Hecht, 1992, American journal of medical genetics.

Molecular genetic studies in achondroplasia.

R. Pyeritz, C. Francomano, P. Le, 1988, Basic life sciences.

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

A. Dehejia, M. Polymeropoulos, M. Johnson, 1997, Matrix biology : journal of the International Society for Matrix Biology.

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

M. Polymeropoulos, S. Ide, J. Rubenstein, 1995, Nature Genetics.

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.

D. Kwiatkowski, D. Marchuk, D. Greenspan, 1995, Genomics.

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

H. Dietz, R. Pyeritz, C. Francomano, 1994, Human Molecular Genetics.

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

A. Kline, J. Bodurtha, C. Francomano, 2019, American journal of medical genetics. Part A.

Longitudinal analysis of symptoms in the Ehlers‐Danlos syndromes

C. Francomano, E. Schaefer, R. Bascom, 2022, American journal of medical genetics. Part A.

The effects of pulsed low-intensity ultrasound on chondrocyte viability, proliferation, gene expression and matrix production.

R. Spencer, C. Francomano, Zi-Jun Zhang, 2003, Ultrasound in medicine & biology.

Identification of a mutation in the gene encoding the alpha subunit of the stimulatory G protein of adenylyl cyclase in McCune-Albright syndrome.

C. Francomano, M. Levine, C. Francomano, 1992, Proceedings of the National Academy of Sciences of the United States of America.

Sleep-disordered breathing in children with achondroplasia.

C. Marcus, G. Loughlin, C. Francomano, 1998, The Journal of pediatrics.

Heritable disorders of connective tissue: Description of a data repository and initial cohort characterization

N. McDonnell, C. Francomano, R. Bascom, 2019, American journal of medical genetics. Part A.

A Skeletal Gene Database

M. Drezner, L. Jia, C. Francomano, 2000, Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral Research.

Comprehensive resource: Skeletal gene database.

J. Powell, L. Jia, C. Francomano, 2001, American journal of medical genetics.

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.

T H Beaty, T. Beaty, Shih-Jen Hwang, 1995, American journal of epidemiology.

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

J. Amberger, V. McKusick, C. Francomano, 1996, American journal of medical genetics.

The skipping of constitutive exons in vivo induced by nonsense mutations

David Valle, H. Dietz, G. Cutting, 1993, Science.

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

A. Kline, J. Bodurtha, C. Francomano, 2018, American journal of medical genetics. Part A.

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

S. Brusilow, C. Francomano, C. Francomano, 1990, Genomics.

The question of heterogeneity in Marfan syndrome

U. Francke, R. Devereux, H. Dietz, 1995, Nature Genetics.

International nomenclature and classification of the osteochondrodysplasias (1997)

D. Sillence, I. Kaitila, D. Rimoin, 1998, Pediatric Radiology.

Gene expression profiling of human bone marrow stromal cells with FGFR-3 mutation (K650M) using cDNA microarrays

M. Bittner, J. Powell, Liming Yang, 1999, Nature Genetics.

Software for constructing and verifying pedigrees within large genealogies and an application to the Old Order Amish of Lancaster County.

R. Agarwala, A. Schäffer, L. Biesecker, 1998, Genome research.

Linkage of typical pseudoachondroplasia to chromosome 19.

S. Blanton, M. Warman, J. Hecht, 1993, Genomics.

Ehlers–Danlos syndromes, hypermobility spectrum disorders, and associated co‐morbidities: Reports from EDS ECHO

B. Tinkle, C. Francomano, A. Hakim, 2021, American journal of medical genetics. Part C, Seminars in medical genetics.

Patient Interest in the Development of a Center for Ehlers-Danlos Syndrome/Hypermobility Spectrum Disorder in the Chicagoland Region

C. Francomano, C. Halverson, Dacre R T Knight, 2023, Research square.

Clinico-pathogenetic findings and management of chondrodystrophic myotonia ( Schwartz-Jampel syndrome )

M. Dalakas, C. Francomano, V. Madike, 2003 .

Prescription Claims for Immunomodulator and Antiinflammatory Drugs Among Persons With Ehlers‐Danlos Syndromes

C. Francomano, R. Bascom, A. Hakim, 2021, Arthritis care & research.

Clinical and biochemical profiles suggest fibromuscular dysplasia is a systemic disease with altered TGF‐β expression and connective tissue features

D. Milewicz, H. Dietz, S. Ganesh, 2014, FASEB journal : official publication of the Federation of American Societies for Experimental Biology.

Living with Marfan syndrome II. Medication adherence and physical activity modification

C. Francomano, R. Horne, B. Biesecker, 2001, Clinical genetics.

Prevalence of Pro250Arg mutation of fibroblast growth factor receptor 3 in coronal craniosynostosis

M. Muenke, C. Francomano, I. Glass, 1997, The Lancet.

Living with Marfan syndrome I. Perceptions of the condition

C. Francomano, R. Horne, B. Biesecker, 2001, Clinical genetics.

Genetics professionals' experiences with grief and loss: implications for support and training

G. Geller, C. Rushton, K. Kolodner, 2010, Clinical genetics.

Characterization of the human talin (TLN) gene: genomic structure, chromosomal localization, and expression pattern.

C. Francomano, T. Ben‐Yosef, C. Francomano, 1999, Genomics.

STICKLER SYNDROME

C. Francomano, Mary B. Sheppard, 2020, Cassidy and Allanson's Management of Genetic Syndromes.

STICKLER SYNDROME

J. Opitz, C. Francomano, T. France, 2010 .

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

M. Polymeropoulos, T. Meitinger, T. Strom, 2000, Nature Genetics.

Craniocervical instability in patients with Ehlers-Danlos syndromes: outcomes analysis following occipito-cervical fusion

C. Francomano, K. Tuchman, Dorothy J Poppe, 2024, Neurosurgical review.

Variants in the Kallikrein Gene Family and Hypermobile Ehlers-Danlos Syndrome

N. Bouatia-Naji, S. Slaugenhaupt, C. Francomano, 2024, Research square.

Tethered Cord Syndrome : Preliminary Report of Clinical Features and Morphometric Analysis on Association of Chiari Malformation Type I

P. Bolognese, T. Milhorat, N. McDonnell, 2009 .

The Financial Impact of Ehlers-Danlos Syndromes on Patients in the United States in 2022

C. Francomano, Jane R. Schubart, Susan E. Mills, 2025, Mayo Clinic Proceedings: Innovations, Quality & Outcomes.

Outcomes of orthopaedic surgery in Ehlers-Danlos syndromes: a scoping review

S. Rodeo, C. Francomano, Jane R. Schubart, 2024, BMC musculoskeletal disorders.

Estimates of the excess cost burden of Ehlers-Danlos syndromes: a United States MarketScan® claims database analysis

C. Francomano, Dacre R T Knight, Jane R. Schubart, 2024, Frontiers in public health.

Patient interest in the development of a center for Ehlers-Danlos syndrome/hypermobility spectrum disorder in the Chicagoland region

C. Francomano, C. Halverson, Dacre R T Knight, 2024, Orphanet journal of rare diseases.

Comorbidity, misdiagnoses, and the diagnostic odyssey in patients with hypermobile Ehlers-Danlos syndrome

C. Francomano, C. Halverson, Shan Cao, 2023, Genetics in medicine open.