Verification of the fetal valproate syndrome phenotype

HH Ardinger, JF Atkin, RD Blackston… - American journal of …, 1988 - Wiley Online Library
We have evaluated 19 children who were exposed to valproic acid (VPA) in utero to look for
manifestations of a fetal valproate syndrome (FVS), as proposed by Di Liberti et al.[1984] …

[BOOK][B] Hereditary hearing loss and its syndromes

RJ Gorlin, HV Toriello - 1995 - books.google.com
This definitive reference work replaces Konigsmark and Gorlin's Genetic and Metabolic
Deafness (1976). Whereas the earlier volume covered 151 genetic conditions related to …

Thrombocytopenia-absent radius syndrome

HV Toriello - Seminars in thrombosis and hemostasis, 2011 - thieme-connect.com
Thrombocytopenia-absent radius (TAR) syndrome is a relatively uncommon condition
characterized by absent radii with the presence of thumbs and congenital or early-onset …

[PDF][PDF] Haploinsufficiency of HDAC4 causes brachydactyly mental retardation syndrome, with brachydactyly type E, developmental delays, and behavioral problems

SR Williams, MA Aldred, VM Der Kaloustian… - The American Journal of …, 2010 - cell.com
Brachydactyly mental retardation syndrome (BDMR) is associated with a deletion involving
chromosome 2q37. BDMR presents with a range of features, including intellectual …

[HTML][HTML] ACMG Practice Guideline: lack of evidence for MTHFR polymorphism testing

SE Hickey, CJ Curry, HV Toriello - Genetics in Medicine, 2013 - Elsevier
MTHFR polymorphism testing is frequently ordered by physicians as part of the clinical
evaluation for thrombophilia. It was previously hypothesized that reduced enzyme activity of …

[HTML][HTML] Statement on guidance for genetic counseling in advanced paternal age

HV Toriello, JM Meck… - Genetics in …, 2008 - Elsevier
Statement on guidance for genetic counseling in advanced paternal age - ScienceDirect Skip
to main contentSkip to article Elsevier logo Journals & Books Search RegisterSign in View …

Oral-facial-digital syndromes, 1992

HV Toriello - Clinical dysmorphology, 1993 - journals.lww.com
In 1988, there were seven conditions which could be considered distinct oral-facial-digital
syndromes (OFDS). Currently there are at least nine, as well as different classification …

Macrocephaly‐cutis marmorata telangiectatica congenita: a distinct disorder with developmental delay and connective tissue abnormalities

CA Moore, HV Toriello, DN Abuelo… - American journal of …, 1997 - Wiley Online Library
We describe 13 unrelated children with abnormalities of somatic growth, face, brain, and
connective tissue including vasculature. Although the condition in these children falls under …

[HTML][HTML] American College of Medical Genetics and Genomics: standards and guidelines for documenting suspected consanguinity as an incidental finding of genomic …

CW Rehder, KL David, B Hirsch, HV Toriello… - Genetics in …, 2013 - Elsevier
Genomic testing, including single-nucleotide polymorphism–based microarrays and whole-
genome sequencing, can detect long stretches of the genome that display homozygosity …

Cellular interference in craniofrontonasal syndrome: males mosaic for mutations in the X-linked EFNB1 gene are more severely affected than true hemizygotes

SRF Twigg, C Babbs, MEP van den Elzen… - Human molecular …, 2013 - academic.oup.com
Craniofrontonasal syndrome (CFNS), an X-linked disorder caused by loss-of-function
mutations of EFNB1, exhibits a paradoxical sex reversal in phenotypic severity: females …