113,349 research outputs found
Noonan syndrome and moyamoya
No full textWe report a patient with Noonan syndrome and asymptomatic cardiac disease (supravalvular aortic stenosis and pulmonary valvular stenosis) who had frequent transient ischemic attacks. Bilateral moyamoya was evident; in addition, he manifested activated protein C resistance and was heterozygous for the factor V Leiden mutation. Anticoagulation abolished his episodes and, despite extensive cerebrovascular disease, he has no permanent neurologic deficits. The association between Noonan syndrome and moyamoya has not previously been described. Disruption of vascular development in prenatal life may have resulted in both cardiac and cerebrovascular disease in this child.</p
Usefulness of Lymphoscintigraphy in Demonstrating Lymphedema in Patients with Noonan Syndrome
No full textLymphatic dysplasia/hypoplasia is found in 15% to 20% of patients with Noonan syndrome. We report a 16-year-old boy with a classic phenotype of Noonan syndrome but a normal karyotype in chromosomal study. During the last 5 years, he had progressive bilateral lower limb edema. The microfilaria study, duplex sonography, and MRI of the lower extremities were all unremarkable. But lymphoscintigraphy showed stocking-like dermal backflow in both legs, delayed lymphatic flow to the inguinal nodes, and dilated lymphatic channels in the abdomen and thorax. These findings suggest that lymphoscintigraphy may be useful in providing vital information on the lymphatic drainage for patients with Noonan syndrome. information on the lymphatic drainage for patients with Noonan syndrome
Noonan, D V, VX24209
No full textThis record was harvested from a previous catalogue system and will be withdrawn in 2025. Information in this record may be superseded or incomplete. Visit this record in UMA's new catalogue at: https://archives.library.unimelb.edu.au/nodes/view/407978Surname: NOONAN. Given Name(s) or Initials: D V. Military Service Number or Last Known Location: VX24209. Missing, Wounded and Prisoner of War Enquiry Card Index Number: 43236.237030
Item: [2016.0049.40253] "Noonan, D V, VX24209
Active backers, product commercialisation, and product quality after a crowdfunding campaign: A comparison between first-time and repeated entrepreneurs
No full textBuilding on the theories of social capital and social obligation, we study how the attraction of active backers, that is, backers who participate in the co-design of the product is associated with product commercialisation and product quality after a reward-based crowdfunding campaign. We argue theoretically and show empirically that this association varies when the entrepreneur’s experience in conducting crowdfunding campaign is taken into account. Through a quantitative analysis of 1406 board games campaigns posted on Kickstarter, we show that for entrepreneurs who are novice to crowdfunding, attracting a large crowd of active backers increases the chances to commercialise the product after the campaign, while it reduces its final quality. On the contrary, for entrepreneurs who already relied on crowdfunding in the past, the attraction of a large crowd of active backers is associated with increasing product quality
Noonan syndrome: A case report
No full textNoonan syndrome is a developmental disorder characterized by facial dysmorphia, short stature, cardiac defects and skeletal malformations. It may be sporadic or inherited as an autosomal dominant or recessive trait and occurs, one in 1000-2500 children. This is a case report of a 13 year-old girl who was referred by a general dental practitioner to a pediatric dentist for management. Full mouth dental rehabilitation was done and the child was brought to a dental institution for correction of orofacial and occlusal defects. Multidisciplinary treatment is the key to success in managing children with Noonan syndrome and the pediatric dentists play an important position to lead the health team
Germline KRAS mutations cause Noonan syndrome.
No full textContains fulltext :
50085.pdf (Publisher’s version ) (Closed access)Noonan syndrome (MIM 163950) is characterized by short stature, facial dysmorphism and cardiac defects. Heterozygous mutations in PTPN11, which encodes SHP-2, cause approximately 50% of cases of Noonan syndrome. The SHP-2 phosphatase relays signals from activated receptor complexes to downstream effectors, including Ras. We discovered de novo germline KRAS mutations that introduce V14I, T58I or D153V amino acid substitutions in five individuals with Noonan syndrome and a P34R alteration in a individual with cardio-facio-cutaneous syndrome (MIM 115150), which has overlapping features with Noonan syndrome. Recombinant V14I and T58I K-Ras proteins show defective intrinsic GTP hydrolysis and impaired responsiveness to GTPase activating proteins, render primary hematopoietic progenitors hypersensitive to growth factors and deregulate signal transduction in a cell lineage-specific manner. These studies establish germline KRAS mutations as a cause of human disease and infer that the constellation of developmental abnormalities seen in Noonan syndrome spectrum is, in large part, due to hyperactive Ras
Noonan's Syndrome [síndrome De Noonan]
No full text[No abstract available]531-23134Noonan, J.A., Ehmke, D.A., Associated noncardiac malformations in children with congenital heart disease (1963) J. Pediatr, 63, pp. 468-470Bernier-Buzzanga, J., Su, W.P.D., Noonan's syndrome with Extensive Verrucae (1990) Cutis, 46 (3), pp. 171-270Portmann, D., Herman, D., Rodrigues, E., Portmann, M., Sindrome de Noonan e manifestações otorrinolaringológicas. Apresentação de um caso (1993) Rev. Bras. de Otorrinolaringologia, 59 (4), pp. 281-283Grob, J.J., Laure, M., Berge, G., Taramasco, M., Bore, P., Benderitter, T., Andrac, L., Bonerandi, J.J., Les signes cutanés du Syndrome de Noonan (1988) Ann. Dermatol. Venereol., 115, pp. 345-347Allanson, J.E., Noonan Syndrome (1987) Journal of Medical Genetics, 24 (1), pp. 9-13Char, F., Rodriguez-Fernandez, H.L., Scott Jr., C.I., The Noonan syndrome - A clinical study of forty-five cases (1972) Birth Defects, 8, pp. 110-118Pierini, D.O., Pierini, A.M., Keratosis pilaris atrophicans faciei (uterythema ophrygenes): A cutaneous marker in the Noonan syndrome (1979) Br. J. Dermat, 100, pp. 409-416Minkin, W., Frank, S.B., Wolman, S.R., Lynphedema in Noonan's syndrome (1974) Int. J. Dermat., 13, pp. 179-183Kaplan, M.S., Opitz, J.M., Gosset, F.R., Noonan's syndrome: A case with elevated serum alkaline phosphatase levels and malignant schwannoma of the left forearm (1968) Am. J Dis. Child, 116, pp. 359-366Collins, E., Turner, G., The Noonan syndrome - A review of the clinical and genetic feature of twenty-seven cases (1973) J. Pediatr., 83, pp. 941-950Vellieux, W., Cardiovascular anomalies in Noonan's syndrome (1977) Chest, 71, pp. 677-679Holt, S., Ryan, W.F., Kirkham, N., Noonan's syndrome and cyanotic congenital heart disease: A report of four cases and review of the literature (1979) Acta Cardiol, 34, pp. 167-177. , BruxNelson, J.F., Tsaknis, P.J., Konselman, J.L., Noonan's syndrome: A report of a case with oral findings (1978) J. Oral Med., 33, pp. 94-96Wyre, H.W., Cutaneous manifestations of Noonan's syndrome (1978) Arch. Dermatol., 114, pp. 929-930Mann, T.P., Noonan's syndrome and neurofibromatosis (1988) Arch Dis. Child., 63, pp. 224-225. , Letter to the editorAbuelo, D.N., Meryash, D.L., Neurofibromatosis with fully expressed Noonan syndrome (1988) Am. J. Med. Genet, 29, pp. 937-942Money, J., Kalus, M.E., Noonan's syndrome: I.Q. and specific disabilities (1979) Am. J. Dis. Child., 133, pp. 846-850Noonan, J.A., Hypertelorism with Turner phenotype: A new syndrome with associated congenital heart disease (1968) Am. J. Dis. Child., 116, pp. 373-380Miller, M., Motulsky, A.C., Noonan syndrome in an adult family presenting with chronic lymphedema (1978) Am. J. Med., 65, pp. 379-383White, S.E., Lymphedema in Noonan's syndrome (1984) Int. J. Dermatol., 23, pp. 656-657Nielsen, D.B., Sex chromosome abnormalities and Noonan syndrome (1980) Arizona Med., 37, pp. 486-490Rigs Jr., W., Roentgen findings in Noonan's syndrome (1970) Radiology, 96, pp. 393-395Celermajer, J.M., Blowder, J.D., Cohen, D.H., Pulmonans stenosis in patients with the Turner phenotype in the male (1968) Am. J. Dis. Child., 116, pp. 351-358Hirsch, H.D., Gelband, H., Garcia, O., Rapidly progressive obstructive cardiomyopathy in infants with Noonan's syndrome: Report of two cases (1975) Circulation, 52, pp. 1161-1165Jackson, G., Anand, I.S., Oram, S., Asymetric septal hypertrophy and propanolol treatment in a case of Ulrich - Noonan syndrome (1979) Br. Heart J., 42, pp. 611-614Wright, N.L., Summitt, R.L., Ainger, L.E., Noonan's syndrome and Ebstein's malformation of the tricuspid valve (1968) Am. J Dis. Child., 116, pp. 367-372Towne, W.D., Fabian, J.S., Rosen, K.M., Systolic prolapse of the mitral valve in Noonan's syndrome (1975) Am. Heart J., 90, pp. 499-502Witt, D.R., Hoyme, H.E., Zonana, J., Lymphedema in Noonan syndrome: Clues to pathogenesis and prenatal diagnosis and review of the literature (1987) A. J. Ned. Genet, 27, pp. 841-856Hernandez, R.J., Stern, A.M., Rosenthal, A., Pulmonary lymphangiectasis in Noonan syndrome (1980) A. J. R., 134, pp. 75-80Vallet, H.L., Holtzapple, P.G., Ebertein, W.R., Noonan syndrome with intestinal lymphangiectasis: A metabolic and anatomic study (1972) J. Pediatr., 80, pp. 269-274Herzog, D.B., Logan, R., Kooistra, J.B., The Noonan syndrome with intestinal lymphangiectasia (1976) J. Pediatr., 88, pp. 270-272Duncan, W.J., Fowler, R.S., Farkas, L.G., A comprehenssive scoring system for evaluating Noonan syndrome (1981) Am. J. Ned. Genet., 10, pp. 37-50Nora, J.J., Sinha, A.K., Nora, H.A., Dominant inheritance of the Noonan syndrome (1972) Birth Defects, 8, pp. 119-121Shah, K.D., Ayyer, K.H., Nair, N., Noonan's syndrome: Case report (1979) Indian Heart, 31, pp. 182-186Noonan, J.A., Noonan syndrome (1972) Birth Defects, 8, pp. 122-123Ross, J.L., Shenkman, L., Noonan's syndrome and hypopituitarism (1980) Am. J. Med. Sci., 279, pp. 47-52Sriran, K., Thomas, K., Barnes, R., Noonan's syndrome: With carcinoma of undescendend testis (1987) Int. Med. 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author-bios-SRD-19-0063.R1 – Supplemental material for The Network Structure of Police Misconduct
No full textSupplemental material, author-bios-SRD-19-0063.R1 for The Network Structure of Police Misconduct by George Wood, Daria Roithmayr and Andrew V. Papachristos in Socius</p
Noonan syndrome: cochlear implantation in the setting of cochlear nerve deficiency
No full textNoonan syndrome (NS) is a congenital disorder characterized by a wide heterogeneity in clinical and genetic features. Hearing loss can frequently occur in NS, although not always mentioned in its diagnostic criteria. We are reporting on a child with an established NS who underwent bilateral cochlear implantation (CI) in the setting of cochlear nerve deficiency
Neurofibromatosis-Noonan syndrome or LEOPARD syndrome? A clinical dilemma
No full textNeurofibromatosis (NF), Noonan syndrome (NS), and LEOPARD syndrome are
all autosomal dominant conditions, each being a distinct clinical
entity by itself. Rarely, one encounters cases with features of NF and
NS and is termed as the 'Neurofibromatosis-Noonan syndrome' (NF-NS).
The authors report a clinical dilemma with major clinical features of
the NF-NS syndrome and LEOPARD syndrome co-existing in the same
patient. Also, features of Noonan syndrome and LEOPARD syndrome are
compared with the case reported
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