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Year Number of Results
1976 1
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1986 3
1987 5
1988 6
1989 7
1990 2
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1994 3
1995 15
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2001 19
2002 14
2003 23
2004 20
2005 25
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1,422 results

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Quoted phrase not found in phrase index: "Dworschak-Punetha neurodevelopmental syndrome"
Page 1
The Clinical Spectrum of PTEN Mutations.
Yehia L, Keel E, Eng C. Yehia L, et al. Annu Rev Med. 2020 Jan 27;71:103-116. doi: 10.1146/annurev-med-052218-125823. Epub 2019 Aug 21. Annu Rev Med. 2020. PMID: 31433956 Review.
PTEN dysfunction causes dysregulation of this and other pathways, resulting in overgrowth. Cowden syndrome, a hereditary cancer predisposition and overgrowth disorder, was the first Mendelian condition associated with germline PTEN mutations. ...With time, it became eviden …
PTEN dysfunction causes dysregulation of this and other pathways, resulting in overgrowth. Cowden syndrome, a hereditary cancer predi …
Adenotonsillectomy for Snoring and Mild Sleep Apnea in Children: A Randomized Clinical Trial.
Redline S, Cook K, Chervin RD, Ishman S, Baldassari CM, Mitchell RB, Tapia IE, Amin R, Hassan F, Ibrahim S, Ross K, Elden LM, Kirkham EM, Zopf D, Shah J, Otteson T, Naqvi K, Owens J, Young L, Furth S, Connolly H, Clark CAC, Bakker JP, Garetz S, Radcliffe J, Taylor HG, Rosen CL, Wang R; Pediatric Adenotonsillectomy Trial for Snoring (PATS) Study Team. Redline S, et al. JAMA. 2023 Dec 5;330(21):2084-2095. doi: 10.1001/jama.2023.22114. JAMA. 2023. PMID: 38051326 Clinical Trial.
OBJECTIVES: To evaluate early adenotonsillectomy compared with watchful waiting and supportive care (watchful waiting) on neurodevelopmental, behavioral, health, and polysomnographic outcomes in children with mild SDB. ...Twenty-two secondary outcomes included 12-month cha …
OBJECTIVES: To evaluate early adenotonsillectomy compared with watchful waiting and supportive care (watchful waiting) on neurodevelopmen …
Missense Variants in the Histone Acetyltransferase Complex Component Gene TRRAP Cause Autism and Syndromic Intellectual Disability.
Cogné B, Ehresmann S, Beauregard-Lacroix E, Rousseau J, Besnard T, Garcia T, Petrovski S, Avni S, McWalter K, Blackburn PR, Sanders SJ, Uguen K, Harris J, Cohen JS, Blyth M, Lehman A, Berg J, Li MH, Kini U, Joss S, von der Lippe C, Gordon CT, Humberson JB, Robak L, Scott DA, Sutton VR, Skraban CM, Johnston JJ, Poduri A, Nordenskjöld M, Shashi V, Gerkes EH, Bongers EMHF, Gilissen C, Zarate YA, Kvarnung M, Lally KP, Kulch PA, Daniels B, Hernandez-Garcia A, Stong N, McGaughran J, Retterer K, Tveten K, Sullivan J, Geisheker MR, Stray-Pedersen A, Tarpinian JM, Klee EW, Sapp JC, Zyskind J, Holla ØL, Bedoukian E, Filippini F, Guimier A, Picard A, Busk ØL, Punetha J, Pfundt R, Lindstrand A, Nordgren A, Kalb F, Desai M, Ebanks AH, Jhangiani SN, Dewan T, Coban Akdemir ZH, Telegrafi A, Zackai EH, Begtrup A, Song X, Toutain A, Wentzensen IM, Odent S, Bonneau D, Latypova X, Deb W; CAUSES Study; Redon S, Bilan F, Legendre M, Troyer C, Whitlock K, Caluseriu O, Murphree MI, Pichurin PN, Agre K, Gavrilova R, Rinne T, Park M, Shain C, Heinzen EL, Xiao R, Amiel J, Lyonnet S, Isidor B, Biesecker LG, Lowenstein D, Posey JE, Denommé-Pichon AS; Deciphering Developmental Disorders study; Férec C, Yang XJ… See abstract for full author list ➔ Cogné B, et al. Am J Hum Genet. 2019 Mar 7;104(3):530-541. doi: 10.1016/j.ajhg.2019.01.010. Epub 2019 Feb 28. Am J Hum Genet. 2019. PMID: 30827496 Free PMC article.
A strong genotype-phenotype correlation was observed with two distinct clinical spectra. The first is a complex, multi-systemic syndrome associated with various malformations of the brain, heart, kidneys, and genitourinary system and characterized by a wide range of intell …
A strong genotype-phenotype correlation was observed with two distinct clinical spectra. The first is a complex, multi-systemic syndrome …
Planned early birth versus expectant management for women with preterm prelabour rupture of membranes prior to 37 weeks' gestation for improving pregnancy outcome.
Bond DM, Middleton P, Levett KM, van der Ham DP, Crowther CA, Buchanan SL, Morris J. Bond DM, et al. Cochrane Database Syst Rev. 2017 Mar 3;3(3):CD004735. doi: 10.1002/14651858.CD004735.pub4. Cochrane Database Syst Rev. 2017. PMID: 28257562 Free PMC article. Review.
However, early birth increased the incidence of respiratory distress syndrome (RDS) (RR 1.26, 95% CI 1.05 to 1.53, 12 trials, 3622 babies, evidence graded high). ...This could be determined by analysing subgroups according to gestational age at presentation, corticosteroid …
However, early birth increased the incidence of respiratory distress syndrome (RDS) (RR 1.26, 95% CI 1.05 to 1.53, 12 trials, 3622 ba …
Epilepsies in infancy.
Alam S, Lux AL. Alam S, et al. Arch Dis Child. 2012 Nov;97(11):985-92. doi: 10.1136/archdischild-2011-301119. Epub 2012 Sep 8. Arch Dis Child. 2012. PMID: 22962318 Review.
and finally, (5) What is the prognosis for neurological and developmental state in later life? This review considers epilepsies that have an onset in infancy but after the perinatal period, outlines the commoner epilepsy syndromes occurring in this age group and des …
and finally, (5) What is the prognosis for neurological and developmental state in later life? This review considers epilepsies that …
Neonatal necrotizing enterocolitis.
Henry MC, Moss RL. Henry MC, et al. Semin Pediatr Surg. 2008 May;17(2):98-109. doi: 10.1053/j.sempedsurg.2008.02.005. Semin Pediatr Surg. 2008. PMID: 18395659 Review.
The critical relevant outcomes following NEC include survival, gastrointestinal function, and neurodevelopmental status. In each of these areas, initial anecdotal and case-series analysis has been followed by studies using more sophisticated methods of analysis. The single …
The critical relevant outcomes following NEC include survival, gastrointestinal function, and neurodevelopmental status. In each of t …
Right care, first time: a highly personalised and measurement-based care model to manage youth mental health.
Hickie IB, Scott EM, Cross SP, Iorfino F, Davenport TA, Guastella AJ, Naismith SL, Carpenter JS, Rohleder C, Crouse JJ, Hermens DF, Koethe D, Markus Leweke F, Tickell AM, Sawrikar V, Scott J. Hickie IB, et al. Med J Aust. 2019 Nov;211 Suppl 9:S3-S46. doi: 10.5694/mja2.50383. Med J Aust. 2019. PMID: 31679171
Consequently, the effects of adolescent-onset mood and psychotic syndromes can have long term consequences. A key clinical challenge for youth mental health is to develop and test new systems that align with current evidence for comorbid presentations and underlying neurob …
Consequently, the effects of adolescent-onset mood and psychotic syndromes can have long term consequences. A key clinical challenge …
Haploinsufficiency in the ANKS1B gene encoding AIDA-1 leads to a neurodevelopmental syndrome.
Carbonell AU, Cho CH, Tindi JO, Counts PA, Bates JC, Erdjument-Bromage H, Cvejic S, Iaboni A, Kvint I, Rosensaft J, Banne E, Anagnostou E, Neubert TA, Scherer SW, Molholm S, Jordan BA. Carbonell AU, et al. Nat Commun. 2019 Aug 6;10(1):3529. doi: 10.1038/s41467-019-11437-w. Nat Commun. 2019. PMID: 31388001 Free PMC article.
Neurodevelopmental disorders, including autism spectrum disorder, have complex polygenic etiologies. Single-gene mutations in patients can help define genetic factors and molecular mechanisms underlying neurodevelopmental disorders. Here we describe individuals with …
Neurodevelopmental disorders, including autism spectrum disorder, have complex polygenic etiologies. Single-gene mutations in patient …
Update on developmental anesthesia neurotoxicity.
Vutskits L, Davidson A. Vutskits L, et al. Curr Opin Anaesthesiol. 2017 Jun;30(3):337-342. doi: 10.1097/ACO.0000000000000461. Curr Opin Anaesthesiol. 2017. PMID: 28277380 Review.
Although three recent population-based human studies found a strong evidence for small increase in risk, the two most robust studies (General Anaesthesia compared to Spinal anaesthesia trial and Pediatric Anesthesia Neurodevelopment Assessment) did not find an association between …
Although three recent population-based human studies found a strong evidence for small increase in risk, the two most robust studies (Genera …
Fetal stroke.
Ozduman K, Pober BR, Barnes P, Copel JA, Ogle EA, Duncan CC, Ment LR. Ozduman K, et al. Pediatr Neurol. 2004 Mar;30(3):151-62. doi: 10.1016/j.pediatrneurol.2003.08.004. Pediatr Neurol. 2004. PMID: 15033196 Review.
Seventy-eight percent of cases with reported outcome resulted in either death or adverse neurodevelopmental outcome at ages 3 months to 6 years. Fetal stroke appears to have different risk factors, clinical characteristics, and outcomes than other perinatal or childhood st …
Seventy-eight percent of cases with reported outcome resulted in either death or adverse neurodevelopmental outcome at ages 3 months …
1,422 results