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
1975 1
2004 1
2019 1
2020 1
2024 0

Text availability

Article attribute

Article type

Publication date

Search Results

4 results

Results by year

Filters applied: . Clear all
Page 1
Molecular and clinical studies in 107 Noonan syndrome affected individuals with PTPN11 mutations.
Athota JP, Bhat M, Nampoothiri S, Gowrishankar K, Narayanachar SG, Puttamallesh V, Farooque MO, Shetty S. Athota JP, et al. BMC Med Genet. 2020 Mar 12;21(1):50. doi: 10.1186/s12881-020-0986-5. BMC Med Genet. 2020. PMID: 32164556 Free PMC article.
The most common facial features were downward-slanting palpebral fissures, hypertelorism and low-set posteriorly rotated ears. Other clinical features included short stature (40%), pectus excavatum (54%) and, in males, unilateral or bilateral cr …
The most common facial features were downward-slanting palpebral fissures, hypertelorism and low-set posteriorly rot …
Antenatal diagnosis of cardio-facio-cutaneous syndrome: Prenatal characteristics and contribution of fetal facial dysmorphic signs in utero. About a case and review of literature.
Biard JM, Steenhaut P, Bernard P, Race V, Sznajer Y. Biard JM, et al. Eur J Obstet Gynecol Reprod Biol. 2019 Sep;240:232-241. doi: 10.1016/j.ejogrb.2019.06.035. Epub 2019 Jul 16. Eur J Obstet Gynecol Reprod Biol. 2019. PMID: 31336229 Review.
The current case report underlines the characteristic dysmorphic facial features on 3D-ultrasound (hypertelorism, down-slanting palpebral fissures, a long and marked philtrum, and low-set posteriorly rotated ears) that allow for a "RASopathy" to …
The current case report underlines the characteristic dysmorphic facial features on 3D-ultrasound (hypertelorism, down-slanting palpebral fi …
Del (10)p autosomal deletion syndrome: clinical, cytogenetic and gene marker studies.
Francke U, Kernahan C, Bradshaw C. Francke U, et al. Humangenetik. 1975;26(4):343-51. doi: 10.1007/BF00285386. Humangenetik. 1975. PMID: 1150232
A 46,XX,del(10)p13 karyotype (Paris Conference, 1971) was identified in a 5-year-old Negro girl with mental and growth retardation, brachy- and trigonocephaly, downward slanting palpebral fissures, hypotelorism, epicanthal folds, ptosis, strabismus, dysplastic nose, high-arched p …
A 46,XX,del(10)p13 karyotype (Paris Conference, 1971) was identified in a 5-year-old Negro girl with mental and growth retardation, brachy- …
Cutaneous manifestations in the cardiofaciocutaneous syndrome, a variant of the classical Noonan syndrome. Report of a case and review of the literature.
Weiss G, Confino Y, Shemer A, Trau H. Weiss G, et al. J Eur Acad Dermatol Venereol. 2004 May;18(3):324-7. doi: 10.1111/j.1468-3083.2004.00365.x. J Eur Acad Dermatol Venereol. 2004. PMID: 15096145 Review.
He presented with clinical findings characteristic of this condition such as: cutaneous abnormalities, including ichthyosis, widespread keratosis pilaris, a peculiar craniofacial appearance with sparse, curly hair and low-set posteriorly rotated ear …
He presented with clinical findings characteristic of this condition such as: cutaneous abnormalities, including ichthyosis, widespread kera …