A Moroccan family consisting of two healthy unrelated parents and three offspring-including two with Noonan syndrome, a rare autosomal dominant disorder with varying expression and genetic heterogeneity-underwent genetic testing revealing that both of the siblings with NS share the same PTPN11 haplotype from both parents, while a distinct paternal and maternal haplotype was inherited by the unaffected sibling. (wikipedia.org)
She uses genetic approaches to identify novel disease genes for dominantly inherited polycystic kidney and liver diseases: a phenotypic spectrum from autosomal dominant polycystic kidney disease (ADPKD) to isolated polycystic liver disease (PCLD), and both in vitro and animal models to further disease gene mechanism investigation. (yale.edu)
Noonan and Noonan-like syndromes are multisystem genetic disorders, mainly with autosomal dominant trasmission, caused by mutations in several genes. (biomedcentral.com)
Heterogeneity3
These are designed by a laboratory to include genes commonly associated with a broad phenotype (e.g., cardiomyopathy, ataxia, intellectual disability) or a recognizable syndrome with genetic heterogeneity (e.g. (nih.gov)
For a phenotypic description and a discussion of genetic heterogeneity of pachyonychia congenita, see 167200. (findzebra.com)
At present, the phenotypic heterogeneity and functional variation of human γδ T cells are increasing. (explorationpub.com)
Clinical5
Protein-tyrosine phosphatase, nonreceptor type 11 mutation analysis and clinical assessment in 45 patients with Noonan syndrome. (cdc.gov)
Asthma is a clinical syndrome characterized by episodic reversible airway obstruction, increased bronchial reactivity, and airway inflammation. (medscape.com)
FBN1-related Marfan syndrome (Marfan syndrome), a systemic disorder of connective tissue with a high degree of clinical variability, comprises a broad phenotypic continuum ranging from mild (features of Marfan syndrome in one or a few systems) to severe and rapidly progressive neonatal multiorgan disease. (beds.ac.uk)
The study of the genotype-phenotype correlation is not simple in recently-described genetic syndromes, with limited numbers of clinical cases, but it is very important for the clinician, who has to interpret the genetic results and organize the follow-up for children with genetic syndromes. (mdpi.com)
Introduction: Deletion syndromes are rare events in clinical practice. (bvsalud.org)
Mutation1
A situation may also arise in which the parents have milder phenotypic expression of a mutation yet produce offspring with more expressive phenotypic variance and a more frequent sibling recurrences of the mutation. (wikipedia.org)
Genes2
These large fold changes in unconstrained genes (e.g., pseudogenes) could result in no or very limited phenotypic changes, since a lack of constraint implies a lack of phenotypic consequence of changes in expression. (biomedcentral.com)
My translational interests and contributions have spanned blood/lymphatic vascular endothelial cell biology and pathobiology in vitro and in vivo, hepatosplanchnic lymphatic/microcirculatory physiology, small animal models, in vivo lymphatic imaging, thoracic duct lymph drainage, lymphogenous cancer spread, and genomics/proteomics of lymphedema-angiodysplasia syndromes in man and experimental models, including defects, deficiency, and overexpression of human and murine lymphangio- gene-sis genes and their syndromic/phenotypic manifestations. (arizona.edu)
While pulmonic valvular stenosis is primarily a congenital malformation, it may also occur as part of congenital rubella syndrome. (medscape.com)
Noonan syndrome (MIM: 163950) is characterised by postnatal short stature, distinctive facial features, congenital heart defects, variable degree of developmental delay and other structural abnormalities. (bmj.com)
I continue to work on a variety of infectious diseases and immune disorders (e.g., inflammatory bowel disease, AIDS, Kaposi sarcoma, tuberculosis, filariasis, congenital/hereditary lymphatic system syndromes, opportunistic infections/neoplasms) and direct an internationally recognized Lymphedema-Angiodysplasia clinic. (arizona.edu)
Variation1
In contrast, a gene that is under strong stabilizing selection-with little variation in expression within species but with a two-fold change between species-is more likely to have contributed to phenotypic divergence between species. (biomedcentral.com)
Polycystic1
Bouchoucha m, according to protect patients from polycystic ovary syndrome. (myjuicecup.com)
Patients1
In nearly all patients with Apert syndrome, the cause is 1 of 2 FGFR2 mutations involving amino acids (Ser252Trp, Pro253Arg). (medscape.com)
Trisomy1
3, 4, 5] Eisenmenger syndrome associated with trisomy 13 also results in RVOTO in conjunction with other cardiac malformations. (medscape.com)
Spectrum1
The mutational spectrum of PTPN11 in juvenile myelomonocytic leukemia and Noonan syndrome/myeloproliferative disease. (cdc.gov)
Correlation1
Chumakov KM, Powers LB, Noonan KE, Roninson IB, Levenbook IS (1991) Correlation between amount of virus with altered nucleotide sequence and the monkey test for acceptability of oral poliovirus vaccine. (springer.com)
Tuberculosis1
Worldwide, economic costs for asthma are more than those for tuberculosis and acquired immunodeficiency syndrome (AIDS) combined. (medscape.com)
Viruses1
On the contrary, current evidence indicates that mutant spectra contribute to viral pathogenesis, can modulate the expression of phenotypic traits by subpopulations of viruses, can include memory genomes that reflect the past evolutionary history of the viral lineage, and, furthermore, can participate in viral extinction through lethal mutagenesis. (springer.com)
Disorder1
In the first documented case of its kind, two offspring of a French woman who had no phenotypic expression of the AD disorder hypertrophic cardiomyopathy, inherited the disease. (wikipedia.org)
Expression2
The definition and classification of hypertrophic cardiomyopathy (HCM) have varied over the decades, primarily because the phenotypic expression of ventricular hypertrophy can result from a myriad of diseases, especially among children. (medscape.com)
As a result, comparing gene expression between species can enable the identification of molecular changes underlying phenotypic divergence. (biomedcentral.com)
Early1
The major morbidity and early mortality in Marfan syndrome relate to the cardiovascular system and include dilatation of the aorta at the level of the sinuses of Valsalva (predisposing to aortic tear and rupture), mitral valve prolapse with or without regurgitation, tricuspid valve prolapse, and enlargement of the proximal pulmonary artery. (beds.ac.uk)
Children1
Infants and children with ejection murmurs auscultated in the pulmonic region often undergo evaluation and PVS may be uncovered. (medscape.com)
The most common etiologies of acquired are carcinoid syndrome, rheumatic fever, and homograft dysfunction. (medscape.com)
Missense pathogenetic variants of SOS1 gene are the second most common cause of Noonan syndrome (NS) and account approximately for 13% to 17% of cases. (biomedcentral.com)
Typical appearance of a patient with Crouzon syndrome, with maxillary retrusion, exorbitism, and pseudoprognathism. (medscape.com)
Study2
A study by Forte et al found that in both Crouzon and Apert syndrome, the bony orbit is shortened, orbital and orbital soft-tissue volumes are reduced, and the globe's volume is increased. (medscape.com)
Methods and Results A total of 1020 individuals with mild-to-moderate ACHD and 497 987 individuals without ACHD from the volunteer-based UK Biobank study underwent neurocognitive tests for fluid intelligence, reaction time, numeric memory, symbol-digit substitution, and trail making at enrollment and follow-up. (stanford.edu)
Surgery1
Rena g, and try to avoid interactions to undergo surgery. (myjuicecup.com)
Short1
SRTD encompasses Ellis-van Creveld syndrome (EVC) and the disorders previously designated as Jeune syndrome or asphyxiating thoracic dystrophy (ATD), short rib-polydactyly syndrome (SRPS), and Mainzer-Saldino syndrome (MZSDS). (beds.ac.uk)
Dental1
The upper dental arch in Crouzon syndrome is narrowed and retruded, which results in a class III malocclusion. (medscape.com)