Noonan syndrome
Noonan syndrome
... Noonan Syndrome (NS) is characterised by short stature, typical facial dysmorphology and congenital heart ...The syndrome is transmitted as an autosomal dominant ...
6
Noonan Syndrome: Clinical Features, Diagnosis, and Management Guidelines
... the Noonan Syndrome Support Group co- ordinated a meeting of health care providers with expertise in various aspects of the disorder with the aim of developing guidelines for its diag- nosis and ...
16
Five-year response to growth hormone in children with Noonan syndrome and growth hormone deficiency
... Background: Noonan syndrome (NS) is an autosomal dominant disorder characterized by specific features including short stature, distinctive facial dysmorphic features, congenital heart defects, hypertrophic ...
6
Developmental SHP2 dysfunction underlies cardiac hypertrophy in Noonan syndrome with multiple lentigines
... abnormalities are associated with cardiac hypertrophy, but their function in cardiac development is not well understood. Loss-of-function mutations in PTPN11, which encodes the protein tyrosine phosphatase (PTP) SHP2, ...
18
MAPK activation in mature cataract associated with Noonan syndrome
... Noonan syndrome (NS, OMIM 163950) is a common genetic disorder characterized by congenital heart disease, short stature, thoracic abnormality, cryptorchidism, men- tal retardation, and a typical facial ...
6
Case Report Noonan Syndrome – A Case Report
... “Noonan syndrome” was adopted in recognition of Dr Noonan, because she was the first to indicate that this condition occurred in both genders, was associated with normal chromosomes, included ...
6
<p>Social cognitive training for adults with Noonan syndrome: a feasibility study</p>
... Dutch Noonan Syndrome Foundation to investigate both interest and support for a social cognitive training, as well as to obtain input from patients and their relatives regarding important aspects of ...
16
Evaluation of bleeding disorders in patients with Noonan syndrome: a systematic review
... Noonan syndrome (NS) is an autosomal dominant genetic condition that affects one in 1,000–2,500 individuals. Typical signs of NS include characteristic facial features, short stature, congenital heart ...
8
Low-dose dasatinib rescues cardiac function in Noonan syndrome
... Germline missense mutations in components of the Ras/MAPK pathway cause a group of autosomal dominant syndromes referred to as RASopathies. Noonan syndrome (NS, OMIM 163950) and NS with multiple lentigines ...
17
The Spectrum of Cardiac Anomalies in Noonan Syndrome as a Result of Mutations in the PTPN11 Gene
... OBJECTIVE. Noonan syndrome is a clinically homogeneous but genetically heteroge- neous ...1 Noonan syndrome is defined by the presence of a mutation in the PTPN11 gene, which is found in ⬃ 40% ...
9
Clinical profile of comorbidity of rare diseases in a Tunisian patient: a case report associating incontinentia pigmenti and Noonan syndrome
... The patient was a one- month- old baby girl referred to our center for a congenital heart defect. The baby was born at full term (40-week s gestation). Pregnancy, as well as the perinatal period, were unremarkable. The ...
7
Activation of multiple signaling pathways causes developmental defects in mice with a Noonan syndrome–associated Sos1 mutation
... Noonan syndrome (NS) is an autosomal dominant genetic disorder characterized by short stature, unique facial features, and congenital heart disease. About 10%–15% of individuals with NS have mutations in ...
14
Effect of 4 years of growth hormone therapy in children with Noonan syndrome in the American Norditropin Studies: Web-Enabled Research (ANSWER) Program® registry
... Noonan syndrome (NS), a genetic disorder first described by Noonan and Ehmke in 1963 [1], is characterized by phenotypic features including facial dysmorphology, car- diovascular anomalies, and short ...
8
MEK ERK pathway modulation ameliorates disease phenotypes in a mouse model of Noonan syndrome associated with the Raf1L613V mutation
... controversial. Noonan syndrome (NS) is one of several auto- somal-dominant conditions known as RASopathies, which are caused by mutations in different components of this ...
18
Disruption of the histone acetyltransferase MYST4 leads to a Noonan syndrome–like phenotype and hyperactivated MAPK signaling in humans and mice
... a Noonan syndrome–like phenotype that encompassed short stature, blepharoptosis, and attention deficit hyperactivity disorder, we identified haploinsufficiency of the histone acetyltransferase gene MYST ...
14
Hemostatic Abnormalities in Noonan Syndrome
... with Noonan syndrome had reduced platelet aggregation with all the agonists tested, suggesting an as- sociation among Noonan syndrome, a platelet function defect, and the bleeding tendency of ...
8
Targeted/exome sequencing identified mutations in ten Chinese patients diagnosed with Noonan syndrome and related disorders
... By retrospectively reviewing the results generated from targeted sequencing/whole exome sequencing between 2014 and 2016, ten patients with mutations in genes in- volved in Noonan syndrome and related ...
7
Mediating ERK1/2 signaling rescues congenital heart defects in a mouse model of Noonan syndrome
... Noonan syndrome (NS) is an autosomal dominant disorder characterized by a wide spectrum of defects, which most frequently include proportionate short stature, craniofacial anomalies, and congenital heart ...
11
Social skills in children with RASopathies: a comparison of Noonan syndrome and neurofibromatosis type 1
... Expanding on previous research, the cross-syndrome comparison presented here demonstrates that the preva- lence and severity of challenges related to social compe- tence appears to be remarkably similar in ...
11
Noonan syndrome and Turner syndrome patients respond similarly to 4 years’ growth-hormone therapy: longitudinal analysis of growth-hormone-naïve patients enrolled in the NordiNet® International Outcome Study and the ANSWER Program
... The NordiNet® IOS and ANSWER Program data on long-term outcomes for patients with NS and TS dem- onstrate that the 2 patient groups responded well and similarly during 4 years ’ GH treat[r] ...
9