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
1995 1
2007 1
2019 1
2021 1
2024 1

Text availability

Article attribute

Article type

Publication date

Search Results

5 results

Results by year

Filters applied: . Clear all
Page 1
Influence of molecular classes and growth hormone treatment on growth and dysmorphology in Prader-Willi syndrome: A multicenter study.
Mahmoud R, Leonenko A, Butler MG, Flodman P, Gold JA, Miller JL, Roof E, Dykens E, Driscoll DJ, Kimonis V. Mahmoud R, et al. Clin Genet. 2021 Jul;100(1):29-39. doi: 10.1111/cge.13947. Epub 2021 Mar 13. Clin Genet. 2021. PMID: 33615449 Free PMC article.
Among participants, upslanting palpebral fissures were seen in 23%; strabismus in 42%; abnormal dentition in 32%; small hands in 63% and small feet in 70%; hypopigmentation in 30%; striae in 32% and skin picking in 26%. Compared to those with UPD, participants with deletio …
Among participants, upslanting palpebral fissures were seen in 23%; strabismus in 42%; abnormal dentition in 32%; small hands in 63% and sma …
Genotype-phenotype correlation in Prader-Willi syndrome: A large-sample analysis in China.
Mao S, Yang L, Gao Y, Zou C. Mao S, et al. Clin Genet. 2024 Apr;105(4):415-422. doi: 10.1111/cge.14477. Epub 2024 Jan 23. Clin Genet. 2024. PMID: 38258470
There are significant differences in the rates of skin hypopigmentation and language developmental delay among the deletion, UPD, and ID genotypes. The patients with deletion type had significantly higher rates of lighter skin color, obesity, hyperphagia, language d …
There are significant differences in the rates of skin hypopigmentation and language developmental delay among the deletion, UPD, and …
Relationship between phenotype and genotype of 102 Chinese newborns with Prader-Willi syndrome.
Ge MM, Gao YY, Wu BB, Yan K, Qin Q, Wang H, Zhou W, Yang L. Ge MM, et al. Mol Biol Rep. 2019 Oct;46(5):4717-4724. doi: 10.1007/s11033-019-04916-2. Epub 2019 Jul 3. Mol Biol Rep. 2019. PMID: 31270759
Of the 75 deletion cases, 75 (100%) week crying, 71 (94.7%) hypotonia, 70 (93.3%) poor feeding, 46 (61.3%) hypopigmentation, 43 (57.3%) male cryptorchidism, 10 (13.3%) female labia minora, 48 (64%) characteristic facial features. Of 27 UPD cases, 27 (100%) week crying and …
Of the 75 deletion cases, 75 (100%) week crying, 71 (94.7%) hypotonia, 70 (93.3%) poor feeding, 46 (61.3%) hypopigmentation, 43 (57.3 …
Genotype and phenotype in patients with Prader-Willi syndrome in Taiwan.
Lin HY, Lin SP, Chuang CK, Chen MR, Yen JL, Lee YJ, Huang CY, Tsai LP, Niu DM, Chao MC, Kuo PL. Lin HY, et al. Acta Paediatr. 2007 Jun;96(6):902-5. doi: 10.1111/j.1651-2227.2007.00284.x. Acta Paediatr. 2007. PMID: 17537021
PWS with deletion was more likely than that with UPD to be characterized by hypogonadism (p < 0.001), small hands and feet (p < 0.001), and hypopigmentation (p < 0.002). Both maternal (p = 0.015) and paternal age (p = 0.021) were higher in the UPD group. ...

PWS with deletion was more likely than that with UPD to be characterized by hypogonadism (p < 0.001), small hands and feet (p < 0.001)

…
Genotype-phenotype correlation in a series of 167 deletion and non-deletion patients with Prader-Willi syndrome.
Gillessen-Kaesbach G, Robinson W, Lohmann D, Kaya-Westerloh S, Passarge E, Horsthemke B. Gillessen-Kaesbach G, et al. Hum Genet. 1995 Dec;96(6):638-43. doi: 10.1007/BF00210291. Hum Genet. 1995. PMID: 8522319
These two types of patients differed with respect to the presence of hypopigmentation, which was more frequent in patients with a deletion (52%) than in patients without (23%), and to average birth weight of females and males, which was lower in patients with a deletion th …
These two types of patients differed with respect to the presence of hypopigmentation, which was more frequent in patients with a del …