1. Neutral endopeptidase-resistant C-type natriuretic Peptide variant represents a new therapeutic approach for treatment of fibroblast growth factor receptor 3-related dwarfism.

    Journal of Pharmacology and Experimental Therap... 353(1):132 (2015) PMID 25650377

    Achondroplasia (ACH), the most common form of human dwarfism, is caused by an activating autosomal dominant mutation in the fibroblast growth factor receptor-3 gene. Genetic overexpression of C-type natriuretic peptide (CNP), a positive regulator of endochondral bone growth, prevents dwarfism in...
  2. Arterial tortuosity in patients with Filamin A- associated vascular aneurysms.

    American Journal of Medical Genetics Part A 164A(11):2961 (2014) PMID 25124759

  3. FGFR3 mutation frequency in 324 cases from the International Skeletal Dysplasia Registry.

    Molecular Genetics & Genomic Medicine 2(6):497 (2014) PMID 25614871 PMCID PMC4303219

    Fibroblast growth factor receptor 3 (FGFR3) is the only gene known to cause achondroplasia (ACH), hypochondroplasia (HCH), and thanatophoric dysplasia types I and II (TD I and TD II). A second, as yet unidentified, gene also causes HCH. In this study, we used sequencing analysis to determine the...
  4. FGFR3 mutation frequency in 324 cases from the International Skeletal Dysplasia Registry.

    Molecular Genetics & Genomic Medicine 2(6):497 (2014) PMID 25614871

    Fibroblast growth factor receptor 3 (FGFR3) is the only gene known to cause achondroplasia (ACH), hypochondroplasia (HCH), and thanatophoric dysplasia types I and II (TD I and TD II). A second, as yet unidentified, gene also causes HCH. In this study, we used sequencing analysis to determine the...
  5. Echocardiographic findings in patients with spontaneous CSF leak.

    Journal of Neurology 261(10):1957 (2014) PMID 25059392

    The presence of cardiovascular abnormalities in patients with spontaneous cerebrospinal fluid (CSF) leaks are not well-documented in the literature, as cardiovascular evaluation is not generally pursued if a patient does not exhibit additional clinical features suggesting an inherited connective...
  6. Dynamic cervicomedullary cord compression and alterations in cerebrospinal fluid dynamics in children with achondroplasia: review of an 11-year surgical case series.

    Journal of Neurosurgery Pediatrics 14(3):238 (2014) PMID 24971605

    Achondroplasia may be associated with compression at the cervicomedullary junction. Determining which patients are at greatest risk for neurological complications of cervicomedullary compression can be difficult. In the current study the authors reviewed their records to determine the incidence ...
  7. Patient-derived skeletal dysplasia induced pluripotent stem cells display abnormal chondrogenic marker expression and regulation by BMP2 and TGFβ1.

    Stem Cells and Development 23(13):1464 (2014) PMID 24559391 PMCID PMC4066255

    Skeletal dysplasias (SDs) are caused by abnormal chondrogenesis during cartilage growth plate differentiation. To study early stages of aberrant cartilage formation in vitro, we generated the first induced pluripotent stem cells (iPSCs) from fibroblasts of an SD patient with a lethal form of met...
  8. Patient-derived skeletal dysplasia induced pluripotent stem cells display abnormal chondrogenic marker expression and regulation by BMP2 and TGFβ1.

    Stem Cells and Development 23(13):1464 (2014) PMID 24559391 PMCID PMC4066255

    Skeletal dysplasias (SDs) are caused by abnormal chondrogenesis during cartilage growth plate differentiation. To study early stages of aberrant cartilage formation in vitro, we generated the first induced pluripotent stem cells (iPSCs) from fibroblasts of an SD patient with a lethal form of met...
  9. WDR34 mutations that cause short-rib polydactyly syndrome type III/severe asphyxiating thoracic dysplasia reveal a role for the NF-κB pathway in cilia.

    The American Journal of Human Genetics 93(5):926 (2013) PMID 24183449 PMCID PMC3824112

    Short-rib polydactyly (SRP) syndrome type III, or Verma-Naumoff syndrome, is an autosomal-recessive chondrodysplasia characterized by short ribs, a narrow thorax, short long bones, an abnormal acetabulum, and numerous extraskeletal malformations and is lethal in the perinatal period. Presently, ...
  10. WDR34Mutations that Cause Short-Rib Polydactyly Syndrome Type III/Severe Asphyxiating Thoracic Dysplasia Reveal a Role for the NF-κB Pathway in Cilia

    The American Journal of Human Genetics 93(5):926 (2013)

    Short-rib polydactyly (SRP) syndrome type III, or Verma-Naumoff syndrome, is an autosomal-recessive chondrodysplasia characterized by short ribs, a narrow thorax, short long bones, an abnormal acetabulum, and numerous extraskeletal malformations and is lethal in the perinatal period. P...
  11. Recurrent compartment syndrome in a patient with clinical features of a connective tissue disorder.

    American Journal of Medical Genetics Part A 161A(6):1442 (2013) PMID 23633393 PMCID PMC3664124

    Arterial complications are common in vascular type Ehlers-Danlos syndrome (EDS), accounting for 66% of first complications. Several cases in the literature have documented acute compartment syndrome (ACS) following vascular rupture in vascular type EDS. Other disorders of connective tissue have ...
  12. Axial spondylometaphyseal dysplasia with retinitis pigmentosa--a clinical report and diagnostic clues.

    Journal of Applied Genetics 54(2):231 (2013) PMID 23371363 PMCID PMC4068338

  13. Human long bone development in vivo: analysis of the distal femoral epimetaphysis on MR images of fetuses.

    Radiology 267(2):570 (2013) PMID 23392423

    To investigate human long bone development in vivo by analyzing distal femoral epimetaphyseal structures and bone morphometrics on magnetic resonance (MR) images of fetuses. An institutional review board approved this retrospective study, and informed consent was waived. Included were 272 MR ima...
  14. Vascular and connective tissue anomalies associated with X-linked periventricular heterotopia due to mutations in Filamin A.

    European Journal of Human Genetics 21(5):494 (2013) PMID 23032111 PMCID PMC3641385

    Mutations conferring loss of function at the FLNA (encoding filamin A) locus lead to X-linked periventricular nodular heterotopia (XL-PH), with seizures constituting the most common clinical manifestation of this disorder in female heterozygotes. Vascular dilatation (mainly the aorta), joint hyp...
  15. Connective tissue spectrum abnormalities associated with spontaneous cerebrospinal fluid leaks: a prospective study.

    European Journal of Human Genetics 21(4):386 (2013) PMID 22929030 PMCID PMC3598315

    We aimed to assess the frequency of connective tissue abnormalities among patients with cerebrospinal fluid (CSF) leaks in a prospective study using a large cohort of patients. We enrolled a consecutive group of 50 patients, referred for consultation because of CSF leak. All patients have been c...
  16. Ehlers-Danlos syndrome type VIII is clinically heterogeneous disorder associated primarily with periodontal disease, and variable connective tissue features.

    European Journal of Human Genetics 21(2):233 (2013) PMID 22739343 PMCID PMC3548259

    Ehlers-Danlos syndrome (EDS) type VIII (periodontitis type) is a distinct form of EDS characterized by periodontal disease leading to precocious dental loss and a spectrum of joint and skin manifestations. EDS type VIII is transmitted in an autosomal dominant pattern; however, the mutated gene h...
  17. Visceroptosis of the bowel in the hypermobility type of Ehlers–Danlos syndrome: Presentation of a rare manifestation and review of the literature

    European Journal of Medical Genetics 55(10):548 (2012)

    Gastrointestinal complications are common in patients with Ehlers–Danlos syndrome, affecting up to 50% of individuals depending on the subtype. The spectrum of gastrointestinal manifestations is broad and ranges from life threatening spontaneous perforation of the visceral organs to a ...
  18. Visceroptosis of the bowel in the hypermobility type of Ehlers-Danlos syndrome: presentation of a rare manifestation and review of the literature.

    European Journal of Medical Genetics 55(10):548 (2012) PMID 22781752 PMCID PMC3568682

    Gastrointestinal complications are common in patients with Ehlers-Danlos syndrome, affecting up to 50% of individuals depending on the subtype. The spectrum of gastrointestinal manifestations is broad and ranges from life threatening spontaneous perforation of the visceral organs to a more benig...
  19. Clubfeet and associated abnormalities on fetal magnetic resonance imaging.

    Prenatal Diagnosis 32(9):822 (2012) PMID 22678996

    Clubfoot, or talipes equinovarus (TEV), is commonly diagnosed on prenatal ultrasound. This study sought to visualize TEV and associated abnormalities on fetal magnetic resonance imaging (MRI) compared with ultrasound. This retrospective study included the MRI scans of 44 fetuses with TEV using p...
  20. Filamin A mutation associated with normal reading skills and dyslexia in a family with periventricular heterotopia.

    American Journal of Medical Genetics Part A 158A(8):1897 (2012) PMID 22740120

    Periventricular heterotopia (PH) is a disorder of neuronal migration during fetal development that is characterized by morphologically normal neurons being located in an anatomically abnormal position in the mature brain. PH is usually diagnosed in patients presenting with a seizure disorder, wh...