Results 51 to 60 of about 2,361 (178)
Prenatal Diagnosis, EarlyView.ABSTRACT Objective To describe diagnostic trajectories and parental decision‐making following increased first‐trimester nuchal translucency (NT), according to NT thickness. Method This 12‐year retrospective cohort study was conducted at a French tertiary Prenatal Diagnosis and Fetal Medicine Center and included 316 singleton pregnancies with first ...
Benjamin Birene +7 more
wiley +1 more source
Structure‐energy‐based predictions and network modelling of RASopathy and cancer missense mutations
Molecular Systems Biology, 2014 The Ras/MAPK syndromes (‘RASopathies’) are a class of developmental disorders caused by germline mutations in 15 genes encoding proteins of the Ras/mitogen‐activated protein kinase (MAPK) pathway frequently involved in cancer.
Christina Kiel, Luis Serrano
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ANZ Journal of Surgery, EarlyView.ABSTRACT Naevus sebaceous (NS) is a congenital cutaneous hamartoma characterised by epidermal, follicular, sebaceous and apocrine components, with a rare but significant potential for malignant transformation, most commonly into basal cell carcinoma (BCC).
Yajat Dua +2 more
wiley +1 more source
Management of rasopathies [PDF]
International Journal of Pediatric Endocrinology, 2013 Noonan syndrome (NS) and NS-related disorders (Cardio-Facio-Cutaneous (CFC) syndrome, Costello syndrome, LEOPARD (Lentigines, ECG conduction abnormalities, Ocular hypertelorism, Pulmonic stenosis, Abnormal genitalia, Retardation of growth and sensory neural Deafness) syndrome) share common clinical features characterized by unique facial features ...
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Clinical Genetics, EarlyView.This study illustrates the phenotypic variability of LZTR1‐related Noonan syndrome type 10 in two pediatric patients, including presentations without congenital heart defects. The findings emphasize the importance of whole‐exome sequencing and longitudinal re‐evaluation of variants of uncertain significance in achieving accurate diagnosis.
Karolina Skrzyńska +3 more
wiley +1 more source
Clinical Genetics, EarlyView.Noonan syndrome and related conditions are caused by variants in multiple genes. We analyzed 456 Russian patients using a 23‐gene panel and found disease‐causing variants in non‐PTPN11 genes in 85 cases. NF1, SOS1, BRAF, and SHOC2 explained half of these diagnoses.
Anna Orlova +5 more
wiley +1 more source
Trials, 2023 Background Cognitive impairment is a common medical issue in rat sarcoma (RAS) pathway disorders, so-called RASopathies, like Neurofibromatosis type 1 (NF1) or Noonan syndrome (NS). It is presumed to be caused by impaired synaptic plasticity.
Nikolai H. Jung +9 more
doaj +1 more source
The Evolving Landscape of CHD Genetics: A Contemporary Guide to Genetic Testing and Management
Journal of Paediatrics and Child Health, EarlyView.ABSTRACT Congenital heart disease (CHD) is the most common birth defect, affecting an estimated 9.4/1000 infants globally. The genetics of CHD is complex, with most cases thought to have multifactorial aetiology, implicating both genetic and environmental factors.
Bridget R. O'Malley +3 more
wiley +1 more source
Clinical overview on
American Journal of Medical Genetics Part C: Seminars in Medical Genetics, 2022 AbstractRASopathies comprise a group of clinically overlapping developmental disorders caused by genetic variations affecting components or modulators of the RAS‐MAPK signaling cascade, which lead to dysregulation of signal flow through this pathway.
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American Journal of Medical Genetics Part A, Volume 200, Issue 9, Page 2151-2156, September 2026.ABSTRACT Arrhythmias affect approximately half of patients with Costello syndrome (CS, OMIM # 218040), with non‐reentrant atrial tachycardia being the most common. This case describes an infant with Costello syndrome carrying the pathogenic HRAS c.34G>A (p.G12S) variant who developed early‐onset, drug‐refractory multifocal atrial tachycardia (MAT ...
Vanina Taliercio +11 more
wiley +1 more source