J B Mulliken
- A novel association between RASA1 mutations and spinal arteriovenous anomaliesR Thiex
Department of Neurointerventional Radiology, Children s Hospital Boston, Harvard Medical School, Massachusetts 02115, USA
AJNR Am J Neuroradiol 31:775-9. 2010..Arteriovenous lesions have been reported in the brain, limbs, and the face in 18.5% of patients. We report a novel association between RASA1 mutations and spinal arteriovenous anomalies...
- Molecular diagnosis of bilateral coronal synostosisJ B Mulliken
Division of Plastic Surgery and the Craniofacial Centre at Children s Hospital, Harvard Medical School, Boston, Mass 02115, USA
Plast Reconstr Surg 104:1603-15. 1999..Our data and those of other investigators suggest that we should begin integrating molecular diagnosis with phenotypic diagnosis of craniosynostoses in studies of natural history and dysmorphology and in analyses of surgical results...
- Klippel-Trenaunay syndrome and spinal arteriovenous malformations: an erroneous associationA I Alomari
Division of Interventional Radiology, Children s Hospital Boston, 300 Longwood Ave, Boston, MA 02115, USA
AJNR Am J Neuroradiol 31:1608-12. 2010..KTS is a rare limb overgrowth disorder with slow-flow vascular anomalies. This study examines the presumed association between KTS and spinal AVMs...
- Cerebrofacial venous anomalies, sinus pericranii, ocular abnormalities and developmental delayB Macit
Division of Vascular and Interventional Radiology, Children s Hospital Boston and Harvard Medical School, Boston, MA 02115, USA
Interv Neuroradiol 18:153-7. 2012..In addition, one child had a seizure disorder. Complex cerebrofacial slow-flow vascular anomalies may herald an underlying developmental aberration affecting the cerebrofacial and orbital regions...
- Safety and clinical efficacy of Onyx for embolization of extracranial head and neck vascular anomaliesR Thiex
Department of Radiology, Brigham and Women s Hospital, Boston, Massachusetts, USA
AJNR Am J Neuroradiol 32:1082-6. 2011..We review our experience and results with the use of Onyx for the treatment of fast-flow extracranial vascular lesions...
- Autosomal dominant craniometaphyseal dysplasia is caused by mutations in the transmembrane protein ANKE Reichenberger
Harvard Forsyth Department of Oral Biology, The Forsyth Institute, Harvard School of Dental Medicine, and Department of Cell Biology, Harvard Medical School, Boston, MA, USA
Am J Hum Genet 68:1321-6. 2001..These results suggest that the mutated protein has a dominant negative effect on the function of ANK, since reduced levels of pyrophosphate in bone matrix are known to increase mineralization...
- Hermann Friedberg's case report: an early description of CLOVES syndromeA I Alomari
Division of Vascular and Interventional Radiology, Children s Hospital Boston, Boston, MA 02115, USA
Clin Genet 78:342-7. 2010..Careful analysis of the case report by the German physician Hermann Friedberg "gigantism of the right lower limb" published in 1867 revealed that the report probably represents one of the first written accounts of CLOVES syndrome...
- Unilateral coronal synostosis: a histomorphometric studyH Vastardis
Department of Growth and Development, Harvard School of Dental Medicine, Boston, Massachusetts, USA
Cleft Palate Craniofac J 41:439-46. 2004..This histomorphometric study compared the open and prematurely fused side of the coronal suture in subjects with unilateral coronal synostosis (UCS)...
- Multifocal rapidly involuting congenital hemangioma: a link to chorangiomaJ B Mulliken
Department of Plastic Surgery, Vascular Anomalies Center, Children s Hospital, Harvard Medical School, Boston, Massachusetts, USA
Am J Med Genet A 143:3038-46. 2007..These placental vascular tumors can also occur in conjunction with solitary and multiple infantile hemangiomas...
- Increased Tie2 expression, enhanced response to angiopoietin-1, and dysregulated angiopoietin-2 expression in hemangioma-derived endothelial cellsY Yu
Surgical Research Laboratory, Department of Surgery, Children s Hospital, Boston, Massachusetts 02115, USA
Am J Pathol 159:2271-80. 2001..These findings implicate Tie2 and its ligands Ang1 and Ang2 in the pathogenesis of hemangioma...