Primary ovarian insufficiency: X chromosome defects and autoimmunity

L Persani, R Rossetti, C Cacciatore, M Bonomi - Journal of autoimmunity, 2009 - Elsevier
Premature ovarian failure (POF) is a primary ovarian defect characterized by absent
menarche or premature depletion of ovarian follicles before the age of 40 years. However, in …

Genetic counseling for fragile x syndrome: updated recommendations of the national society of genetic counselors

A McConkie‐Rosell, B Finucane… - Journal of genetic …, 2005 - Wiley Online Library
These recommendations describe the minimum standard criteria for genetic counseling and
testing of individuals and families with fragile X syndrome, as well as carriers and potential …

Executive functions in young males with fragile X syndrome in comparison to mental age-matched controls: baseline findings from a longitudinal study.

SR Hooper, D Hatton, J Sideris, K Sullivan… - …, 2008 - psycnet.apa.org
The performance of 54 boys with fragile X syndrome (FXS), ages 7 to 13 years, was
compared to that of a group of typically develo** boys who were matched on mental age …

Mathematics learning disability in girls with Turner syndrome or fragile X syndrome

MM Murphy, MMM Mazzocco, G Gerner, AE Henry - Brain and cognition, 2006 - Elsevier
Two studies were carried out to examine the persistence (Study 1) and characteristics (Study
2) of mathematics learning disability (MLD) in girls with Turner syndrome or fragile X during …

[BOG][B] Developmental language disorders: From phenotypes to etiologies

ML Rice, SF Warren - 2004 - books.google.com
Developmental Language Disorders: From Phenotypes to Etiologies is based on the recent
conference of the same name sponsored by the Merrill Advanced Studies Center of the …

Fragile-X: neuropsychological test performance, CGG triplet repeat lengths, and hippocampal volumes.

P Jäkälä, T Hänninen, M Ryynänen… - The Journal of …, 1997 - Am Soc Clin Investig
We compared cognitive performance and hippocampal volumes using magnetic resonance
imaging (MRI) in adult fragile-X [fra (X)] males and females with either premutation (pM) or …

X-linked premature ovarian failure: a complex disease

D Toniolo - Current opinion in genetics & development, 2006 - Elsevier
Involvement of the X chromosome in premature ovarian failure was demonstrated by the
relatively frequent chromosomal rearrangements in patients, but the requirement of two X …

Fragile‐X carrier females: evidence for a distinct psychopathological phenotype?

P Franke, W Maier, M Hautzinger… - American journal of …, 1996 - Wiley Online Library
The present study examined 35 mothers (29 premutation carriers) of children with fragile‐X
syndrome in measures of intelligence and psychiatric disorders by comparing them with two …

Behavioural phenotypes and special educational needs: is aetiology important in the classroom?

C Reilly - Journal of Intellectual Disability Research, 2012 - Wiley Online Library
Background A number of genetic conditions with associated intellectual disability and/or
special educational needs have increasingly well‐defined behavioural phenotypes. Thus …

Abnormal behaviors of young girls with fragile X syndrome

AM Lachiewicz - American Journal of Medical Genetics, 1992 - Wiley Online Library
Mothers of 38 young girls with fragile X [fra (X)] between the ages of 4 and 11 years filled out
the Child Behavior Checklist. Forty‐seven percent of the girls had T scores> 70 on the …