Opitz G/BBB syndrome, a defect of midline development, is due to mutations in a new RING finger gene on Xp22

…, M Volta, G Andolfi, S Gilgenkrantz, RW Marion… - Nature …, 1997 - nature.com
Opitz syndrome (OS) is an inherited disorder characterized by midline defects including
hypertelorism, hypospadias, lip-palate-laryngotracheal clefts and imperforate anus. We have …

[PDF][PDF] De novo mutations in the beta-tubulin gene TUBB2A cause simplified gyral patterning and infantile-onset epilepsy

…, DT Pilz, JGL Mullins, LE Seltzer, RW Marion… - The American Journal of …, 2014 - cell.com
Tubulins, and microtubule polymers into which they incorporate, play critical mechanical
roles in neuronal function during cell proliferation, neuronal migration, and postmigrational …

[HTML][HTML] Mosaic epigenetic dysregulation of ectodermal cells in autism spectrum disorder

…, JD Buxbaum, S Molholm, JJ Foxe, RW Marion… - PLoS …, 2014 - journals.plos.org
DNA mutational events are increasingly being identified in autism spectrum disorder (ASD),
but the potential additional role of dysregulation of the epigenome in the pathogenesis of the …

Central nervous system anomalies in Seckel syndrome: report of a new family and review of the literature

…, A Bogdanow, RW Marion - American journal of …, 1997 - Wiley Online Library
Seckel syndrome (SS) is a rare, heterogeneous form of primordial dwarfism. The clinical
delineation of this disorder has been inconsistent, using even Seckel's original criteria. As a …

Spondyloepiphyseal dysplasia congenita: genetic linkage to type II collagen (COL2AI).

IJ Anderson, RB Goldberg, RW Marion… - American journal of …, 1990 - ncbi.nlm.nih.gov
Spondyloepiphyseal dysplasia congenita (SEDC) is an autosomal dominantly inherited
chondrodysplasia characterized by disproportionate short stature (short trunk), abnormal …

Human T-cell lymphotropic virus type III (HTLV-III) embryopathy: a new dysmorphic syndrome associated with intrauterine HTLV-III infection

RW Marion, AA Wiznia, RG Hutcheon… - American Journal of …, 1986 - jamanetwork.com
• Twenty infants and children with positive serologic tests for the human T-cell lymphotropic
virus type III (HTLV-III) were noted to have similar features including growth failure (75%), …

Disclosing genetic information to family members about inherited cardiac arrhythmias: an obligation or a choice?

…, D Barlevy, D Wasserman, C Walsh, RW Marion… - Journal of genetic …, 2015 - Springer
Inherited cardiac arrhythmias such as long QT syndrome and Brugada syndrome, present
clinical as well as ethical, legal, and social challenges. Many individuals who carry a …

Second‐trimester molecular prenatal diagnosis of sporadic Apert syndrome following suspicious ultrasound findings

…, EW Jabs, JS Glickstein, RW Marion… - … in Obstetrics and …, 1999 - Wiley Online Library
Apert syndrome, an autosomal dominant disorder characterized by craniosynostosis, mid‐facial
malformations, symmetric bony syndactyly of hands and feet, and varying degrees of …

Hirschsprung disease in an infant with a contiguous gene syndrome of chromosome 13

…, JC Leonard, P Fuller, RW Marion - American journal of …, 2001 - Wiley Online Library
Hirschsprung disease is a developmental disorder resulting from the arrest of the craniocaudal
migration of enteric neurons from the neural crest along gastrointestinal segments of …

Apparent dominant transmission of the Rubinstein‐Taybi syndrome

RW Marion, DM Garcia… - American journal of …, 1993 - Wiley Online Library
The cause of the Ruinstein‐Taybi syndrome (RTS), a multiple congenital anomalies/mental
retardation (MCA/MR) syndrome first described in 1963, remains obscure. Recently, a …