Clinical practice guidelines for the care of girls and women with Turner syndrome: proceedings from the 2016 Cincinnati International Turner Syndrome Meeting
CH Gravholt, NH Andersen, GS Conway… - European journal of …, 2017 - academic.oup.com
Abstract Turner syndrome affects 25–50 per 100,000 females and can involve multiple
organs through all stages of life, necessitating multidisciplinary approach to care. Previous …
organs through all stages of life, necessitating multidisciplinary approach to care. Previous …
Children born small for gestational age: differential diagnosis, molecular genetic evaluation, and implications
MJJ Finken, M van der Steen, CCJ Smeets… - Endocrine …, 2018 - academic.oup.com
Children born small for gestational age (SGA), defined as a birth weight and/or length
below− 2 SD score (SDS), comprise a heterogeneous group. The causes of SGA are …
below− 2 SD score (SDS), comprise a heterogeneous group. The causes of SGA are …
Consensus statement on the diagnosis and treatment of children with idiopathic short stature: a summary of the Growth Hormone Research Society, the Lawson …
Objective: Our objective was to summarize important advances in the management of
children with idiopathic short stature (ISS). Participants: Participants were 32 invited leaders …
children with idiopathic short stature (ISS). Participants: Participants were 32 invited leaders …
Prevention and treatment of pediatric obesity: an endocrine society clinical practice guideline based on expert opinion
GP August, S Caprio, I Fennoy… - The Journal of …, 2008 - academic.oup.com
Objective: Our objective was to formulate practice guidelines for the treatment and
prevention of pediatric obesity. Conclusions: We recommend defining overweight as body …
prevention of pediatric obesity. Conclusions: We recommend defining overweight as body …
Short stature due to SHOX deficiency: genotype, phenotype, and therapy
G Binder - Hormone research in paediatrics, 2011 - karger.com
SHOX deficiency is a frequent cause of short stature. The short stature homeobox-containing
gene resides in the telomeric PAR1 region on the short arm of both sex chromosomes and …
gene resides in the telomeric PAR1 region on the short arm of both sex chromosomes and …
Genetic evaluation of short stature
A Dauber, RG Rosenfeld… - The Journal of Clinical …, 2014 - academic.oup.com
Context: Genetics plays a major role in determining an individual's height. Although there
are many monogenic disorders that lead to perturbations in growth and result in short …
are many monogenic disorders that lead to perturbations in growth and result in short …
The human pseudoautosomal region (PAR): origin, function and future
A Helena Mangs, BJ Morris - Current genomics, 2007 - ingentaconnect.com
The pseudoautosomal regions (PAR1 and PAR2) of the human X and Y chromosomes pair
and recombine during meiosis. Thus genes in this region are not inherited in a strictly sex …
and recombine during meiosis. Thus genes in this region are not inherited in a strictly sex …
Idiopathic short stature: definition, epidemiology, and diagnostic evaluation
JM Wit, PE Clayton, AD Rogol, MO Savage… - Growth Hormone & IGF …, 2008 - Elsevier
Idiopathic short stature is a condition in which the height of the individual is more than 2 SD
below the corresponding mean height for a given age, sex and population, in whom no …
below the corresponding mean height for a given age, sex and population, in whom no …
A track record on SHOX: from basic research to complex models and therapy
A Marchini, T Ogata, GA Rappold - Endocrine Reviews, 2016 - academic.oup.com
SHOX deficiency is the most frequent genetic growth disorder associated with isolated and
syndromic forms of short stature. Caused by mutations in the homeobox gene SHOX, its …
syndromic forms of short stature. Caused by mutations in the homeobox gene SHOX, its …
Diagnostic approach in children with short stature
W Oostdijk, FK Grote… - Hormone Research in …, 2009 - karger.com
For early detection of pathological causes of growth failure proper referral criteria are
needed, as well as a thorough clinical, radiological and laboratory assessment. In this …
needed, as well as a thorough clinical, radiological and laboratory assessment. In this …