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 …
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 …
roles in neuronal function during cell proliferation, neuronal migration, and postmigrational …
[HTML][HTML] Mosaic epigenetic dysregulation of ectodermal cells in autism spectrum disorder
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 …
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 …
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 …
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%), …
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 …
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 …
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 …
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 …
retardation (MCA/MR) syndrome first described in 1963, remains obscure. Recently, a …