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From:International Journal of Trichology (Vol. 4, Issue 1) Peer-ReviewedByline: V. Venugopal, Subashini. Karthikeyan, Pushpa. Gnanaraj, Murali. Narasimhan Woolly hair nevus is a rare non-hereditary focal condition characterized by unruly and tightly coiled hair. It can appear in...
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From:Practice NurseOnline support is now available for families that have a child with Noonan Syndrome--a complex and debilitating genetic disorder. The Birth Defects Foundation (BDF) is now hosting a dedicated Noonan Syndrome chatroom...
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From:Journal of Clinical Investigation (Vol. 120, Issue 12) Peer-ReviewedNoonan 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 son of...
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From:Journal of Indian Academy of Oral Medicine and Radiology (Vol. 28, Issue 2) Peer-ReviewedByline: Munish. Kumar, Vinod. Chandar, Sridevi. Koduri, Shailaja. Sankireddy Noonan syndrome is a clinically and genetically heterogeneous condition characterized by distinctive facial features, short stature, chest...
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From:Pediatric Cardiology (Vol. 26, Issue 6) Peer-Reviewed
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From:Journal of Clinical Investigation (Vol. 117, Issue 8) Peer-ReviewedNoonan 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 disease....
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From:Nature (Vol. 465, Issue 7299) Peer-ReviewedThe generation of reprogrammed induced pluripotent stem cells (iPSCs) from patients with defined genetic disorders holds the promise of increased understanding of the aetiologies of complex diseases and may also...
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From:Indian Journal of Anaesthesia (Vol. 59, Issue 7) Peer-ReviewedByline: Sheetal. Jagtap, Hemalata. Iyer, Rochana. Bakhshi, Hemant. Lahoti Introduction Noonan syndrome (NS) is an autosomal dominant disorder with craniofacial, cardiac, skeletal abnormalities, haemorrhagic...
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From:Pediatrics (Vol. 119, Issue 6) Peer-ReviewedOBJECTIVE. Noonan syndrome is a clinically homogeneous but genetically heterogeneous condition. Type 1 Noonan syndrome is defined by the presence of a mutation in the PTPN11 gene, which is found in ~40% of the cases....
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From:Italian Journal of Pediatrics (Vol. 41, Issue 1) Peer-ReviewedBackground Noonan syndrome (NS) is an autosomal dominant disorder characterized by specific features including short stature, distinctive facial dysmorphic features, congenital heart defects, hypertrophic...
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From:Journal of Indian Society of Pedodontics and Preventive Dentistry (Vol. 25, Issue 3) Peer-ReviewedByline: S. Asokan, M. Muthu, V. Rathna Prabhu Noonan syndrome is a developmental disorder characterized by facial dysmorphia, short stature, cardiac defects and skeletal malformations. It may be sporadic or inherited...
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From:Journal of Medical Genetics (Vol. 40, Issue 9) Peer-ReviewedNoonan syndrome (MIM 163950), an autosomal dominant disorder with an estimated prevalence of 1/10002500 at birth, is characterised by short stature, facial anomalies, pterygium colli, and congenital heart disease. (1 2)...
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From:Biology and Medicine (Vol. 9, Issue 6) Peer-ReviewedBackground: Noonan Syndrome (NS) is a relatively common autosomal dominant condition, caused by germline mutations in different genes involved in the RAS MAP Kinase signaling pathway. Although clinically heterogeneous,...
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From:Journal of Clinical Investigation (Vol. 117, Issue 8) Peer-ReviewedNoonan 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 disease (CHD)....
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From:Journal of Clinical Investigation (Vol. 120, Issue 12) Peer-ReviewedNoonan syndrome (NS) is a relatively common autosomal dominant genetic disorder that is characterized by short stature, unique facial features, and congenital heart disease. Approximately 10%-15% of affected individuals...
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From:Journal of Clinical Investigation (Vol. 123, Issue 3) Peer-ReviewedLymphatic vessels are thought to arise from PROX1-positive endothelial cells (ECs) in the cardinal vein in response to induction of SOX18 expression; however, the molecular event responsible for increased SOX18...
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From:Stem Cell Research & Therapy (Vol. 11, Issue 1) Peer-ReviewedBackground Noonan syndrome (NS) is a developmental disorder caused by mutations of Src homology 2 domain-containing protein tyrosine phosphatase 2 (SHP2). Although NS patients have diverse neurological manifestations,...
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From:Journal of Clinical Investigation (Vol. 126, Issue 8) Peer-ReviewedHypertrophic cardiomyopathy is a common cause of mortality in congenital heart disease (CHD). Many gene abnormalities are associated with cardiac hypertrophy, but their function in cardiac development is not well...
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From:Journal of Speech, Language, and Hearing Research (Vol. 53, Issue 4) Peer-ReviewedPurpose: This study presents an analysis of language skills in individuals with Noonan syndrome (NS), an autosomal dominant genetic disorder. We investigated whether the language impairments affecting some individuals...
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From:Italian Journal of Pediatrics (Vol. 48, Issue 1) Peer-ReviewedBackground Noonan and Noonan-like syndromes are multisystem genetic disorders, mainly with autosomal dominant trasmission, caused by mutations in several genes. Missense pathogenetic variants of SOS1 gene are the...