Database : MEDLINE
Search on : noonan and syndrome [Words]
References found : 2233 [refine]
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[PMID]: 29424797
[Au] Autor:Alkhunaizi E; Walkiewicz MA; Chitayat D
[Ad] Address:Department of Medical and Metabolic Genetics, McGill University Health Centre, Montreal, Quebec.
[Ti] Title:Mutation in the ADNP gene associated with Noonan syndrome features.
[So] Source:Clin Dysmorphol;27(2):53-57, 2018 Apr.
[Is] ISSN:1473-5717
[Cp] Country of publication:England
[La] Language:eng
[Pt] Publication type:JOURNAL ARTICLE
[Em] Entry month:1802
[Cu] Class update date: 180308
[Lr] Last revision date:180308
[St] Status:In-Process
[do] DOI:10.1097/MCD.0000000000000215

  2 / 2233 MEDLINE  
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[PMID]: 29501311
[Au] Autor:Plaza OA; Moreno F
[Ad] Address:National Institute of Legal Medicine and Forensic Sciences, Cali, Colombia. Electronic address: oscarplazap33@hotmail.com.
[Ti] Title:Anatomical variations of the thymus in relation to the left brachiocephalic vein, findings of necropsia.
[So] Source:Int J Pediatr Otorhinolaryngol;107:53-55, 2018 Apr.
[Is] ISSN:1872-8464
[Cp] Country of publication:Ireland
[La] Language:eng
[Ab] Abstract:Two cases of anatomical variations of the thymus are presented with respect to the anatomical relations with the left brachiocephalic vein and found during the necropsy process. Less than 2 days after birth with Noonan Syndrome, when the left brachiocephalic vein was scanning behind the upper thymus horns, there were other adjacent lesions consisting of three supernumerary spleens and three hepatic veins. The second case was an 8-year-old infant with child malpractice who died from urinary sepsis due to obstructive uropathy, in which case the upper lobes of the thymus were fused and formed a ring through which the left brachiocephalic vein passed.
[Pt] Publication type:JOURNAL ARTICLE
[Em] Entry month:1803
[Cu] Class update date: 180304
[Lr] Last revision date:180304
[St] Status:In-Process

  3 / 2233 MEDLINE  
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[PMID]: 29490994
[Au] Autor:Alexander PMA; Nugent AW; Daubeney PEF; Lee KJ; Sleeper LA; Schuster T; Turner C; Davis AM; Semsarian C; Colan SD; Robertson T; Ramsay J; Justo R; Sholler GF; King I; Weintraub RG; National Australian Childhood Cardiomyopathy Study
[Ad] Address:Royal Children's Hospital, Melbourne, Victoria, Australia; Murdoch Children's Research Institute, Melbourne, Victoria, Australia; Boston Children's Hospital, Boston, MA; Harvard Medical School, Boston, MA peta_alexander@me.com.
[Ti] Title:Long-Term Outcomes of Hypertrophic Cardiomyopathy Diagnosed During Childhood: Results from a National Population-Based Study.
[So] Source:Circulation;, 2018 Feb 28.
[Is] ISSN:1524-4539
[Cp] Country of publication:United States
[La] Language:eng
[Ab] Abstract:-Late survival and symptomatic status of children with hypertrophic cardiomyopathy (HCM) have not been well defined. We examined long-term outcomes for pediatric HCM. -The National Australian Childhood Cardiomyopathy Study is a longitudinal population-based cohort study of children (0-10 years) diagnosed with cardiomyopathy between 1987 and 1996. The primary study end-point was time to death or cardiac transplantation. -There were 80 patients with HCM with median age at diagnosis of 0.48 (Inter-quartile range [IQR] 0.1, 2.5) years. Freedom from death/transplantation (95% confidence interval [CI]) was 86 (77-92)% one year after presentation, 80 (69-87)% at 10 years and 78 (67-86)% at 20 years. From multivariable analyses, risk factors for death/transplantation included symmetric left ventricular hypertrophy at the time of diagnosis (hazard ratio [HR] 4.20 95%CI 1.60, 11.05 p=0.004), Noonan syndrome (HR 2.88, 95%CI 1.02, 8.08, p=0.045), higher posterior wall thickness z-score (HR 1.45, 95%CI 1.22, 1.73, p<0.001) and lower fractional shortening z-score (HR 0.84, 95%CI 0.74, 0.95, p=0.005) during follow-up. Nineteen (23%) subjects underwent left ventricular myectomy. At median 15.7 years' follow-up, 27 (42%) of 63 survivors were treated with beta-blocker and 13 (21%) had an implantable cardioverter-defibrillator. -The highest risk of death or transplantation for children with HCM is within one year post-diagnosis, with low attrition rates thereafter. Many subjects receive medical, surgical or device therapy.
[Pt] Publication type:JOURNAL ARTICLE
[Em] Entry month:1803
[Cu] Class update date: 180301
[Lr] Last revision date:180301
[St] Status:Publisher

  4 / 2233 MEDLINE  
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[PMID]: 29362165
[Au] Autor:Morice A; Harroche A; Cairet P; Khonsari RH
[Ad] Address:Assistant Professor, Department of Maxillofacial and Plastic Surgery, APHP, Hôpital Universitaire Necker-Enfants Malades, Université Paris Descartes, Sorbonne Paris Cité, APHP, Paris; Centre de références des malformations de la face et de la cavité buccale, Paris, France. Electronic address: anne.m
[Ti] Title:Preoperative Detailed Coagulation Tests Are Required in Patients With Noonan Syndrome.
[So] Source:J Oral Maxillofac Surg;, 2017 Dec 29.
[Is] ISSN:1531-5053
[Cp] Country of publication:United States
[La] Language:eng
[Ab] Abstract:PURPOSE: Patients with Noonan syndrome often require surgery at young ages. They are at high risk of perioperative bleeding from coagulation defects that might not have been detected by routine screening. These risks are rarely described in the oral and maxillofacial surgery (OMS) literature. The aim of this study was to evaluate the perioperative bleeding risks associated with Noonan syndrome and to propose preoperative guidelines. MATERIALS AND METHODS: This report describes a retrospective case series of patients with Noonan syndrome who underwent OMS procedures during a continuous observational period (2013 through 2016) in the authors' center. Clinical data, blood screening test results, and perioperative bleeding were analyzed. RESULTS: Five patients (age, 4 to 20 yr) with Noonan syndrome who underwent OMS procedures were included in this study. One patient presented a spontaneous bleeding tendency (epistaxis requiring cauterization). Blood screening showed clotting defects in 3 patients. One patient presented abnormal perioperative bleeding owing to a mild defect in factor XI. CONCLUSION: Patients with Noonan syndrome must be referred to a hematologist for specific preoperative investigations and for adapted perioperative management.
[Pt] Publication type:JOURNAL ARTICLE
[Em] Entry month:1801
[Cu] Class update date: 180225
[Lr] Last revision date:180225
[St] Status:Publisher

  5 / 2233 MEDLINE  
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[PMID]: 29469822
[Au] Autor:Johnston JJ; van der Smagt JJ; Rosenfeld JA; Pagnamenta AT; Alswaid A; Baker EH; Blair E; Borck G; Brinkmann J; Craigen W; Dung VC; Emrick L; Everman DB; van Gassen KL; Gulsuner S; Harr MH; Jain M; Kuechler A; Leppig KA; McDonald-McGinn DM; Can NTB; Peleg A; Roeder ER; Rogers RC; Sagi-Dain L; Sapp JC; Schäffer AA; Schanze D; Stewart H; Taylor JC; Verbeek NE; Walkiewicz MA; Zackai EH; Zweier C; Zenker M; Lee B; Biesecker LG; Members of the Undiagnosed Diseases Network
[Ad] Address:Medical Genomics and Metabolic Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland, USA.
[Ti] Title:Autosomal recessive Noonan syndrome associated with biallelic LZTR1 variants.
[So] Source:Genet Med;, 2018 Feb 22.
[Is] ISSN:1530-0366
[Cp] Country of publication:United States
[La] Language:eng
[Ab] Abstract:PurposeTo characterize the molecular genetics of autosomal recessive Noonan syndrome.MethodsFamilies underwent phenotyping for features of Noonan syndrome in children and their parents. Two multiplex families underwent linkage analysis. Exome, genome, or multigene panel sequencing was used to identify variants. The molecular consequences of observed splice variants were evaluated by reverse-transcription polymerase chain reaction.ResultsTwelve families with a total of 23 affected children with features of Noonan syndrome were evaluated. The phenotypic range included mildly affected patients, but it was lethal in some, with cardiac disease and leukemia. All of the parents were unaffected. Linkage analysis using a recessive model supported a candidate region in chromosome 22q11, which includes LZTR1, previously shown to harbor mutations in patients with Noonan syndrome inherited in a dominant pattern. Sequencing analyses of 21 live-born patients and a stillbirth identified biallelic pathogenic variants in LZTR1, including putative loss-of-function, missense, and canonical and noncanonical splicing variants in the affected children, with heterozygous, clinically unaffected parents and heterozygous or normal genotypes in unaffected siblings.ConclusionThese clinical and genetic data confirm the existence of a form of Noonan syndrome that is inherited in an autosomal recessive pattern and identify biallelic mutations in LZTR1.Genet Med advance online publication, 22 February 2018; doi:10.1038/gim.2017.249.
[Pt] Publication type:JOURNAL ARTICLE
[Em] Entry month:1802
[Cu] Class update date: 180222
[Lr] Last revision date:180222
[St] Status:Publisher
[do] DOI:10.1038/gim.2017.249

  6 / 2233 MEDLINE  
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[PMID]: 29432239
[Au] Autor:Rosser T
[Ti] Title:Neurocutaneous Disorders.
[So] Source:Continuum (Minneap Minn);24(1, Child Neurology):96-129, 2018 Feb.
[Is] ISSN:1538-6899
[Cp] Country of publication:United States
[La] Language:eng
[Ab] Abstract:PURPOSE OF REVIEW: This article presents an up-to-date summary of the genetic etiology, diagnostic criteria, clinical features, and current management recommendations for the most common neurocutaneous disorders encountered in clinical adult and pediatric neurology practices. RECENT FINDINGS: The phakomatoses are a phenotypically and genetically diverse group of multisystem disorders that primarily affect the skin and central nervous system. A greater understanding of the genetic and biological underpinnings of numerous neurocutaneous disorders has led to better clinical characterization, more refined diagnostic criteria, and improved treatments in neurofibromatosis type 1, Legius syndrome, neurofibromatosis type 2, Noonan syndrome with multiple lentigines, tuberous sclerosis complex, Sturge-Weber syndrome, and incontinentia pigmenti. SUMMARY: Neurologists require a basic knowledge of and familiarity with a wide variety of neurocutaneous disorders because of the frequent involvement of the central and peripheral nervous systems. A simple routine skin examination can often open a broad differential diagnosis and lead to improved patient care.
[Pt] Publication type:JOURNAL ARTICLE
[Em] Entry month:1802
[Cu] Class update date: 180212
[Lr] Last revision date:180212
[St] Status:In-Data-Review
[do] DOI:10.1212/CON.0000000000000562

  7 / 2233 MEDLINE  
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[PMID]: 29421787
[Au] Autor:Aleksiuniene B; Preiksaitiene E; Morkuniene A; Ambrozaityte L; Utkus A
[Ad] Address:Department of Human and Medical Genetics, Institute of Biomedical Sciences of the Faculty of Medicine of Vilnius University, Lithuania.
[Ti] Title:A de novo 1q22q23.1 Interstitial Microdeletion in a Girl with Intellectual Disability and Multiple Congenital Anomalies Including Congenital Heart Defect.
[So] Source:Cytogenet Genome Res;, 2018 Feb 09.
[Is] ISSN:1424-859X
[Cp] Country of publication:Switzerland
[La] Language:eng
[Ab] Abstract:Many studies have shown that molecular karyotyping is an effective diagnostic tool in individuals with developmental delay/intellectual disability. We report on a de novo interstitial 1q22q23.1 microdeletion, 1.6 Mb in size, detected in a patient with short stature, microcephaly, hypoplastic corpus callosum, cleft palate, minor facial anomalies, congenital heart defect, camptodactyly of the 4-5th fingers, and intellectual disability. Chromosomal microarray analysis revealed a 1.6-Mb deletion in the 1q22q23.1 region, arr[GRCh37] 1q22q23.1(155630752_157193893)×1. Real-time PCR analysis confirmed its de novo origin. The deleted region encompasses 50 protein-coding genes, including the morbid genes APOA1BP, ARHGEF2, LAMTOR2, LMNA, NTRK1, PRCC, RIT1, SEMA4A, and YY1AP1. Although the unique phenotype observed in our patient can arise from the haploinsufficiency of the dosage-sensitive LMNA gene, the dosage imbalance of other genes implicated in the rearrangement could also contribute to the phenotype. Further studies are required for the delineation of the phenotype associated with this rare chromosomal alteration and elucidation of the critical genes for manifestation of the specific clinical features.
[Pt] Publication type:JOURNAL ARTICLE
[Em] Entry month:1802
[Cu] Class update date: 180208
[Lr] Last revision date:180208
[St] Status:Publisher
[do] DOI:10.1159/000486947

  8 / 2233 MEDLINE  
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[PMID]: 29394990
[Au] Autor:Martinelli S; Krumbach OHF; Pantaleoni F; Coppola S; Amin E; Pannone L; Nouri K; Farina L; Dvorsky R; Lepri F; Buchholzer M; Konopatzki R; Walsh L; Payne K; Pierpont ME; Vergano SS; Langley KG; Larsen D; Farwell KD; Tang S; Mroske C; Gallotta I; Di Schiavi E; Della Monica M; Lugli L; Rossi C; Seri M; Cocchi G; Henderson L; Baskin B; Alders M; Mendoza-Londono R; Dupuis L; Nickerson DA; Chong JX; Meeks N; Brown K; Causey T; Cho MT; Demuth S; Digilio MC; Gelb BD; Bamshad MJ; Zenker M; Ahmadian MR; Hennekam RC; Tartaglia M; Mirzaa GM; University of Washington Center for Mendelian Genomics
[Ad] Address:Department of Oncology and Molecular Medicine, Istituto Superiore di Sanità, Rome 00161, Italy.
[Ti] Title:Functional Dysregulation of CDC42 Causes Diverse Developmental Phenotypes.
[So] Source:Am J Hum Genet;, 2018 Jan 17.
[Is] ISSN:1537-6605
[Cp] Country of publication:United States
[La] Language:eng
[Ab] Abstract:Exome sequencing has markedly enhanced the discovery of genes implicated in Mendelian disorders, particularly for individuals in whom a known clinical entity could not be assigned. This has led to the recognition that phenotypic heterogeneity resulting from allelic mutations occurs more commonly than previously appreciated. Here, we report that missense variants in CDC42, a gene encoding a small GTPase functioning as an intracellular signaling node, underlie a clinically heterogeneous group of phenotypes characterized by variable growth dysregulation, facial dysmorphism, and neurodevelopmental, immunological, and hematological anomalies, including a phenotype resembling Noonan syndrome, a developmental disorder caused by dysregulated RAS signaling. In silico, in vitro, and in vivo analyses demonstrate that mutations variably perturb CDC42 function by altering the switch between the active and inactive states of the GTPase and/or affecting CDC42 interaction with effectors, and differentially disturb cellular and developmental processes. These findings reveal the remarkably variable impact that dominantly acting CDC42 mutations have on cell function and development, creating challenges in syndrome definition, and exemplify the importance of functional profiling for syndrome recognition and delineation.
[Pt] Publication type:JOURNAL ARTICLE
[Em] Entry month:1802
[Cu] Class update date: 180203
[Lr] Last revision date:180203
[St] Status:Publisher

  9 / 2233 MEDLINE  
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[PMID]: 29356064
[Au] Autor:McDonald BS; Pigors M; Kelsell DP; O'Toole EA; Burkitt-Wright E; Kerr B; Batta K
[Ad] Address:Department of Dermatology, Watford General Hospital, Hertfordshire Hospitals NHS Trust, Watford, Hertfordshire, UK.
[Ti] Title:Noonan syndrome with multiple lentigines and associated craniosynostosis.
[So] Source:Clin Exp Dermatol;, 2018 Jan 22.
[Is] ISSN:1365-2230
[Cp] Country of publication:England
[La] Language:eng
[Pt] Publication type:JOURNAL ARTICLE
[Em] Entry month:1801
[Cu] Class update date: 180122
[Lr] Last revision date:180122
[St] Status:Publisher
[do] DOI:10.1111/ced.13329

  10 / 2233 MEDLINE  
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[PMID]: 29271604
[Au] Autor:Harms FL; Alawi M; Amor DJ; Tan TY; Cuturilo G; Lissewski C; Brinkmann J; Schanze D; Kutsche K; Zenker M
[Ad] Address:Institute of Human Genetics, University Medical Center Hamburg-Eppendorf, Hamburg, Germany.
[Ti] Title:The novel RAF1 mutation p.(Gly361Ala) located outside the kinase domain of the CR3 region in two patients with Noonan syndrome, including one with a rare brain tumor.
[So] Source:Am J Med Genet A;176(2):470-476, 2018 Feb.
[Is] ISSN:1552-4833
[Cp] Country of publication:United States
[La] Language:eng
[Ab] Abstract:Noonan syndrome is characterized by typical craniofacial dysmorphism, postnatal growth retardation, congenital heart defect, and learning difficulties and belongs to the RASopathies, a group of neurodevelopmental disorders caused by germline mutations in genes encoding components of the RAS-MAPK pathway. Mutations in the RAF1 gene are associated with Noonan syndrome, with a high prevalence of hypertrophic cardiomyopathy (HCM). RAF1 mutations cluster in exons encoding the conserved region 2 (CR2), the kinase activation segment of the CR3 domain, and the C-terminus. We present two boys with Noonan syndrome and the identical de novo RAF1 missense variant c.1082G>C/p.(Gly361Ala) affecting the CR3, but located outside the kinase activation segment. The p.(Gly361Ala) mutation has been identified as a RAF1 allele conferring resistance to RAF inhibitors. This amino acid change favors a RAF1 conformation that allows for enhanced RAF dimerization and increased intrinsic kinase activity. Both patients with Noonan syndrome showed typical craniofacial dysmorphism, macrocephaly, and short stature. One individual developed HCM and was diagnosed with a disseminated oligodendroglial-like leptomeningeal tumor (DOLT) of childhood at the age of 9 years. While there is a well-established association of NS with malignant tumors, especially childhood hemato-oncological diseases, brain tumors have rarely been reported in Noonan syndrome. Our data demonstrate that mutation scanning of the entire coding region of genes associated with Noonan syndrome is mandatory not to miss rare variants located outside the known mutational hotspots.
[Pt] Publication type:JOURNAL ARTICLE
[Em] Entry month:1712
[Cu] Class update date: 180115
[Lr] Last revision date:180115
[St] Status:In-Data-Review
[do] DOI:10.1002/ajmg.a.38569


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