Thomas Jefferson University

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Lin, Angel
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Item TypeName
Concept Phenotype
Academic Article Molecular aspects, clinical aspects and possible treatment modalities for Costello syndrome: Proceedings from the 1st International Costello Syndrome Research Symposium 2007.
Academic Article Costello syndrome: Clinical phenotype, genotype, and management guidelines.
Academic Article Phenotypic analysis of individuals with Costello syndrome due to HRAS p.G13C.
Academic Article 47,XXX associated with malformations.
Academic Article Adults with Sotos syndrome: review of 21 adults with molecularly confirmed NSD1 alterations, including a detailed case report of the oldest person.
Academic Article Nablus syndrome: Easy to diagnose yet difficult to solve.
Academic Article Toward a genetic etiology of CHARGE syndrome: I. A systematic scan for submicroscopic deletions.
Academic Article Costello syndrome: a Ras/mitogen activated protein kinase pathway syndrome (rasopathy) resulting from HRAS germline mutations.
Academic Article An additional patient with mycophenolate mofetil embryopathy: cardiac and facial analyses.
Academic Article Congenital polyvalvular disease expands the cardiac phenotype of the RASopathies.
Academic Article Population-based analysis of left- and right-sided diaphragmatic hernias demonstrates different frequencies of selected additional anomalies.
Academic Article Expanding the clinical and molecular findings in RASA1 capillary malformation-arteriovenous malformation.
Academic Article Gain-of-function mutations in SMAD4 cause a distinctive repertoire of cardiovascular phenotypes in patients with Myhre syndrome.
Academic Article Recognition and management of adults with Turner syndrome: From the transition of adolescence through the senior years.
Academic Article Expanded cardiovascular phenotype of Myhre syndrome includes tetralogy of Fallot suggesting a role for SMAD4 in human neural crest defects.
Academic Article Genotype-phenotype analysis of the branchio-oculo-facial syndrome.
Academic Article Spectrum of CHD7 mutations in 110 individuals with CHARGE syndrome and genotype-phenotype correlation.
Academic Article An additional patient with SMAD4-Juvenile Polyposis-Hereditary hemorrhagic telangiectasia and connective tissue abnormalities: SMAD4 loss-of-function and gain-of-function pathogenic variants result in contrasting phenotypes.
Academic Article Molecular and clinical analyses of Greig cephalopolysyndactyly and Pallister-Hall syndromes: robust phenotype prediction from the type and position of GLI3 mutations.
Academic Article Deletion of chromosome 8q22.1, a critical region for Nablus mask-like facial syndrome: four additional cases support a role of genetic modifiers in the manifestation of the phenotype.
Academic Article Gain-of-function pathogenic variants in SMAD4 are associated with neoplasia in Myhre syndrome.
Academic Article Genetic counseling for women with 45,X/46,XX mosaicism: Towards more personalized management.
Academic Article Baraitser-Winter cerebrofrontofacial syndrome: delineation of the spectrum in 42 cases.
Academic Article Sensenbrenner syndrome (Cranioectodermal dysplasia): clinical and molecular analyses of 39 patients including two new patients.
Academic Article Cervical artery dissection expands the cardiovascular phenotype in FBN1-related Weill-Marchesani syndrome.
Academic Article Total is more than the sum of the parts: phenotyping the heart in cardiovascular genetics clinics.
Academic Article Molecular analysis expands the spectrum of phenotypes associated with GLI3 mutations.
Academic Article SMCHD1 mutations associated with a rare muscular dystrophy can also cause isolated arhinia and Bosma arhinia microphthalmia syndrome.
Academic Article Further delineation of the phenotype resulting from BRAF or MEK1 germline mutations helps differentiate cardio-facio-cutaneous syndrome from Costello syndrome.
Academic Article The diagnosis of Costello syndrome: nomenclature in Ras/MAPK pathway disorders.
Academic Article HRAS mutation analysis in Costello syndrome: genotype and phenotype correlation.
Academic Article Cardiac phenotypes in chromosome 4q- syndrome with and without a deletion of the dHAND gene.
Academic Article Partial Loss of USP9X Function Leads to a Male Neurodevelopmental and Behavioral Disorder Converging on Transforming Growth Factor ? Signaling.
Academic Article Myhre syndrome in adulthood: clinical variability and emerging genotype-phenotype correlations.
Academic Article Prospective Cardiovascular Genetics Evaluation in Spontaneous Coronary Artery Dissection.
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