2024
Upregulation versus loss of function of NTRK2 in 44 affected individuals leads to 2 distinct neurodevelopmental disorders
Berger E, Jauss R, Ranells J, Zonic E, von Wintzingerode L, Wilson A, Wagner J, Tuttle A, Thomas-Wilson A, Schulte B, Rabin R, Pappas J, Odgis J, Muthaffar O, Mendez-Fadol A, Lynch M, Levy J, Lehalle D, Lake N, Krey I, Kozenko M, Knierim E, Jouret G, Jobanputra V, Isidor B, Hunt D, Hsieh T, Holtz A, Haack T, Gold N, Dunstheimer D, Donge M, Deb W, De La Rosa Poueriet K, Danyel M, Christodoulou J, Chopra S, Callewaert B, Busche A, Brick L, Bigay B, Arlt M, Anikar S, Almohammal M, Almanza D, Alhashem A, Bertoli-Avella A, Sticht H, Abou Jamra R. Upregulation versus loss of function of NTRK2 in 44 affected individuals leads to 2 distinct neurodevelopmental disorders. Genetics In Medicine 2024, 27: 101326. PMID: 39540377, DOI: 10.1016/j.gim.2024.101326.Peer-Reviewed Original ResearchDevelopmental delayHeterozygous pathogenic variantsTherapy-refractory epilepsyAffected individualsPhenotype of developmental delayDevelopmental delay/intellectual disabilityGlobal developmental delayRecurrent variant c.Associated with global developmental delayCholesterol-binding motifsTrkB activationVariant c.Pathogenic variantsMuscular hypotoniaFeeding difficultiesSevere phenotypeLoss of functionBinding motifVisual impairmentTransmembrane domainTruncating variantsNeurodevelopmental disordersNTRK2CohortVariants
2021
Expanding the genotypic and phenotypic spectrum in a diverse cohort of 104 individuals with Wiedemann‐Steiner syndrome
Sheppard S, Campbell I, Harr M, Gold N, Li D, Bjornsson H, Cohen J, Fahrner J, Fatemi A, Harris J, Nowak C, Stevens C, Grand K, Au M, Graham J, Sanchez‐Lara P, Del Campo M, Jones M, Abdul‐Rahman O, Alkuraya F, Bassetti J, Bergstrom K, Bhoj E, Dugan S, Kaplan J, Derar N, Gripp K, Hauser N, Innes A, Keena B, Kodra N, Miller R, Nelson B, Nowaczyk M, Rahbeeni Z, Ben‐Shachar S, Shieh J, Slavotinek A, Sobering A, Abbott M, Allain D, Amlie‐Wolf L, Au P, Bedoukian E, Beek G, Barry J, Berg J, Bernstein J, Cytrynbaum C, Chung B, Donoghue S, Dorrani N, Eaton A, Flores‐Daboub J, Dubbs H, Felix C, Fong C, Fung J, Gangaram B, Goldstein A, Greenberg R, Ha T, Hersh J, Izumi K, Kallish S, Kravets E, Kwok P, Jobling R, Johnson A, Kushner J, Lee B, Levin B, Lindstrom K, Manickam K, Mardach R, McCormick E, McLeod D, Mentch F, Minks K, Muraresku C, Nelson S, Porazzi P, Pichurin P, Powell‐Hamilton N, Powis Z, Ritter A, Rogers C, Rohena L, Ronspies C, Schroeder A, Stark Z, Starr L, Stoler J, Suwannarat P, Velinov M, Weksberg R, Wilnai Y, Zadeh N, Zand D, Falk M, Hakonarson H, Zackai E, Quintero‐Rivera F. Expanding the genotypic and phenotypic spectrum in a diverse cohort of 104 individuals with Wiedemann‐Steiner syndrome. American Journal Of Medical Genetics Part A 2021, 185: 1649-1665. PMID: 33783954, PMCID: PMC8631250, DOI: 10.1002/ajmg.a.62124.Peer-Reviewed Original ResearchConceptsIntellectual disabilityWiedemann-Steiner syndromeGenotype-phenotype correlationDevelopmental trajectoriesDevelopmental milestonesClinician's differential diagnosisAssociated with loss of functionLong-term outcomesDiverse cohortAutosomal dominant disorderEthnically diverse cohortAssociated with lossDevelopmental delayDisabilityMedian ageClinical featuresMonoallelic variantsShort statureDifferential diagnosisPhenotypic spectrumHypertrichosis cubitiIndividualsMedical comorbiditiesDominant disorderFeeding difficulties
2016
Fathers and mothers with eating-disorder psychopathology: Associations with child eating-disorder behaviors
Lydecker JA, Grilo CM. Fathers and mothers with eating-disorder psychopathology: Associations with child eating-disorder behaviors. Journal Of Psychosomatic Research 2016, 86: 63-69. PMID: 27302549, PMCID: PMC4911698, DOI: 10.1016/j.jpsychores.2016.05.006.Peer-Reviewed Original ResearchConceptsEating-disorder psychopathologyEating-disordered behaviorChild body mass index (BMI) z-scoreBody mass index z-scoreSample of parentsChild feeding difficultiesCore eating disorder psychopathologyIndex z-scoreBinge-eating disorderParental feeding practicesEating Disorder PsychopathologyFeeding difficultiesChild weightChildren's dietsChildren's eatingMaternal concernClinical concernFeeding practicesBulimia nervosaEating Disorder BehaviorsAnorexia nervosaZ-scorePsychosocial causesClinical interventionsClinical programs
1990
Persistent Perceptions of Vulnerability Following Neonatal Jaundice
Kemper K, Forsyth B, McCarthy P. Persistent Perceptions of Vulnerability Following Neonatal Jaundice. JAMA Pediatrics 1990, 144: 238-241. PMID: 2301331, DOI: 10.1001/archpedi.1990.02150260118043.Peer-Reviewed Original ResearchConceptsMothers of infantsVulnerable child syndromeHealthy infantsNeonatal jaundiceYale-New Haven HospitalInfant health problemsComparison groupChild syndromeFeeding difficultiesEmergency departmentSimilar infantsJaundiceHealth problemsInfantsSuch treatmentMonthsMothersSyndromeHospitalSimilar numberTreatmentGroupSymptoms
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