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Table representation of search results timeline featuring number of search results per year.

Year Number of Results
1976 1
1980 1
1981 1
1982 1
1983 2
1984 2
1985 2
1986 3
1987 5
1988 6
1989 7
1990 2
1991 1
1992 6
1993 6
1994 3
1995 15
1996 4
1997 10
1998 12
1999 14
2000 18
2001 19
2002 14
2003 23
2004 20
2005 25
2006 22
2007 31
2008 34
2009 37
2010 27
2011 37
2012 59
2013 54
2014 60
2015 74
2016 86
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2019 126
2020 127
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2022 143
2023 133
2024 43

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1,408 results

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Quoted phrase not found in phrase index: "Ferguson-Bonni 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 …
Chromatin remodeler Activity-Dependent Neuroprotective Protein (ADNP) contributes to syndromic autism.
D'Incal CP, Van Rossem KE, De Man K, Konings A, Van Dijck A, Rizzuti L, Vitriolo A, Testa G, Gozes I, Vanden Berghe W, Kooy RF. D'Incal CP, et al. Clin Epigenetics. 2023 Mar 21;15(1):45. doi: 10.1186/s13148-023-01450-8. Clin Epigenetics. 2023. PMID: 36945042 Free PMC article. Review.
In this review, we summarize available information on one of the most frequently mutated genes in syndromic autism the Activity-Dependent Neuroprotective Protein (ADNP). RESULTS: Heterozygous and predicted loss-of-function ADNP mutations in individuals inevitably re …
In this review, we summarize available information on one of the most frequently mutated genes in syndromic autism the Activity-Depen …
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 …
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 …
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 …
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 …
DHX37 and 46,XY DSD: A New Ribosomopathy?
McElreavey K, Pailhoux E, Bashamboo A. McElreavey K, et al. Sex Dev. 2022;16(2-3):194-206. doi: 10.1159/000522004. Epub 2022 Jul 14. Sex Dev. 2022. PMID: 35835064 Free article. Review.
Recently, a series of recurrent missense variants in the RNA-helicase DHX37 have been reported associated with either 46,XY gonadal dysgenesis, 46,XY testicular regression syndrome (TRS), or anorchia. All affected children have non-syndromic forms of disorders/diffe …
Recently, a series of recurrent missense variants in the RNA-helicase DHX37 have been reported associated with either 46,XY gonadal dysgenes …
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 …
Evaluation and management of the child with hypothyroidism.
Leung AKC, Leung AAC. Leung AKC, et al. World J Pediatr. 2019 Apr;15(2):124-134. doi: 10.1007/s12519-019-00230-w. Epub 2019 Feb 8. World J Pediatr. 2019. PMID: 30734891 Review.
Prompt recognition and treatment of hypothyroidism is, therefore, of utmost importance to optimize physical and neurodevelopmental outcomes. DATA SOURCES: A PubMed search was completed in Clinical Queries using the key terms "hypothyroidism". ...Central hypothyroidism is u …
Prompt recognition and treatment of hypothyroidism is, therefore, of utmost importance to optimize physical and neurodevelopmental ou …
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 …
1,408 results