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research New Case of Trichorhinophalangeal Syndrome-Like Phenotype with a De Novo t(2;8)(p16.1;q23.3) Translocation Which Does Not Disrupt the TRPS1 Gene

9 citations, May 2014 in “BMC medical genetics”

A woman with a unique syndrome similar to TRPS has a genetic change near the TRPS1 gene, affecting its regulation.

research Elevated DHEAS and Acute Hair Loss in an Adult Male with Trichorhinophalangeal Syndrome Type 1: A Case of Male PCOS

November 2022 in “Journal of the Endocrine Society”

A 21-year-old male with a rare genetic disorder experienced sudden hair loss and high DHEAS levels, likely due to a condition similar to PCOS, usually seen in women.

2014 Female Athlete Triad Coalition Consensus Statement on Treatment and Return to Play of the Female Athlete Triad: 1st International Conference Held in San Francisco, California, May 2012 and 2nd International Conference Held in Indianapolis, Indiana, May 2013

research 2014 Female Athlete Triad Coalition Consensus Statement on Treatment and Return to Play of the Female Athlete Triad: 1st International Conference Held in San Francisco, California, May 2012 and 2nd International Conference Held in Indianapolis, Indiana, May 2013

400 citations, January 2014 in “British Journal of Sports Medicine”

The consensus provided guidelines for treating the Female Athlete Triad and a system to decide when athletes can return to sports.

research Androgen Treatment in Adolescent Males With Hypogonadism

19 citations, May 2020 in “American journal of men's health”

Testosterone therapy helps boys with hormone deficiencies develop normal male characteristics and grow properly.

A Case of MBTPS1-Related Disorder Due to Compound Heterozygous Variants in MBTPS1 Gene: Genotype-Phenotype Expansion and the Emergence of a Novel Syndrome

research A Case of MBTPS1-Related Disorder Due to Compound Heterozygous Variants in MBTPS1 Gene: Genotype-Phenotype Expansion and the Emergence of a Novel Syndrome

December 2023 in “American journal of medical genetics. Part A”

A new syndrome was linked to two new genetic changes in the MBTPS1 gene in a 14-year-old girl.

research A 15-Year-Old Girl with Trichorhinophalangeal Syndrome Type 1 and Non-Ossifying Fibroma in Femur: A Case Report

August 2022 in “Journal of Comprehensive Pediatrics”

A girl with a rare genetic disorder had a unique bone condition, highlighting the need for careful diagnosis and suggesting the disorder might be more common than thought.

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