Skip to main page content
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

Https

The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation

Search Page

Filters

My NCBI Filters

Results by year

Table representation of search results timeline featuring number of search results per year.

Year Number of Results
2017 1
2019 1
2020 1
2024 1

Text availability

Article attribute

Article type

Publication date

Search Results

3 results

Results by year

Filters applied: . Clear all
Quoted phrase not found in phrase index: "Meier-Gorlin syndrome 2"
Page 1
Defining the progeria phenome.
Worm C, Schambye MER, Mkrtchyan GV, Veviorskiy A, Shneyderman A, Ozerov IV, Zhavoronkov A, Bakula D, Scheibye-Knudsen M. Worm C, et al. Aging (Albany NY). 2024 Feb 9;16(3):2026-2046. doi: 10.18632/aging.205537. Epub 2024 Feb 9. Aging (Albany NY). 2024. PMID: 38345566 Free PMC article.
Furthermore, this allowed us to investigate the correlation of progeroid syndromes and syndromes with various pathogenesis using hierarchical clustering algorithms and disease networks. We detected that ataxia-telangiectasia like disorder 2, spastic paraplegia 49 and Me …
Furthermore, this allowed us to investigate the correlation of progeroid syndromes and syndromes with various pathogenesis using hierarchica …
Pathogenic variants in CDC45 on the remaining allele in patients with a chromosome 22q11.2 deletion result in a novel autosomal recessive condition.
Unolt M, Kammoun M, Nowakowska B, Graham GE, Crowley TB, Hestand MS, Demaerel W, Geremek M, Emanuel BS, Zackai EH, Vermeesch JR, McDonald-McGinn D. Unolt M, et al. Genet Med. 2020 Feb;22(2):326-335. doi: 10.1038/s41436-019-0645-4. Epub 2019 Sep 2. Genet Med. 2020. PMID: 31474763 Free PMC article.
PURPOSE: The 22q11.2 deletion syndrome (22q11.2DS) is the most common microdeletion in humans, with highly variable phenotypic expression. ...We suggest that this association results in a condition independent of Meier-Gorlin syndrome, perhaps represen …
PURPOSE: The 22q11.2 deletion syndrome (22q11.2DS) is the most common microdeletion in humans, with highly variable phenotypic expres …
High diagnostic yield of clinically unidentifiable syndromic growth disorders by targeted exome sequencing.
Kim YM, Lee YJ, Park JH, Lee HD, Cheon CK, Kim SY, Hwang JY, Jang JH, Yoo HW. Kim YM, et al. Clin Genet. 2017 Dec;92(6):594-605. doi: 10.1111/cge.13038. Epub 2017 Aug 30. Clin Genet. 2017. PMID: 28425089
RESULTS: Among the 13 families, 6 different disorders in 8 patients with short stature or overgrowth were identified, and the diagnostic yield was 46.2%. One boy with overgrowth had a TGFB3 gene mutation. In the short stature group, Coffin-Lowry syndrome (CLS), trichorhino …
RESULTS: Among the 13 families, 6 different disorders in 8 patients with short stature or overgrowth were identified, and the diagnostic yie …