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

Year Number of Results
1962 1
1966 1
1968 4
1969 1
1970 2
1971 3
1973 1
1974 1
1975 9
1976 8
1977 7
1978 6
1979 12
1980 5
1981 11
1982 5
1983 7
1984 16
1985 11
1986 8
1987 14
1988 13
1989 17
1990 19
1991 20
1992 20
1993 17
1994 26
1995 18
1996 17
1997 21
1998 18
1999 18
2000 23
2001 32
2002 25
2003 25
2004 25
2005 41
2006 36
2007 44
2008 45
2009 49
2010 55
2011 84
2012 89
2013 112
2014 114
2015 109
2016 112
2017 123
2018 137
2019 127
2020 152
2021 187
2022 140
2023 123
2024 62

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2,083 results

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Quoted phrase not found in phrase index: "Blepharophimosis-impaired intellectual development syndrome"
Page 1
Down syndrome: Cognitive and behavioral functioning across the lifespan.
Grieco J, Pulsifer M, Seligsohn K, Skotko B, Schwartz A. Grieco J, et al. Am J Med Genet C Semin Med Genet. 2015 Jun;169(2):135-49. doi: 10.1002/ajmg.c.31439. Epub 2015 May 18. Am J Med Genet C Semin Med Genet. 2015. PMID: 25989505 Review.
Individuals with Down syndrome (DS) commonly possess unique neurocognitive and neurobehavioral profiles that emerge within specific developmental periods. ...Individuals with DS possess many unique strengths and weaknesses that should be appreciated as they develop …
Individuals with Down syndrome (DS) commonly possess unique neurocognitive and neurobehavioral profiles that emerge within specific d …
Diagnosis and management in Pitt-Hopkins syndrome: First international consensus statement.
Zollino M, Zweier C, Van Balkom ID, Sweetser DA, Alaimo J, Bijlsma EK, Cody J, Elsea SH, Giurgea I, Macchiaiolo M, Smigiel R, Thibert RL, Benoist I, Clayton-Smith J, De Winter CF, Deckers S, Gandhi A, Huisman S, Kempink D, Kruisinga F, Lamacchia V, Marangi G, Menke L, Mulder P, Nordgren A, Renieri A, Routledge S, Saunders CJ, Stembalska A, Van Balkom H, Whalen S, Hennekam RC. Zollino M, et al. Clin Genet. 2019 Apr;95(4):462-478. doi: 10.1111/cge.13506. Epub 2019 Feb 18. Clin Genet. 2019. PMID: 30677142 Review.
Pitt-Hopkins syndrome (PTHS) is a neurodevelopmental disorder characterized by intellectual disability, specific facial features, and marked autonomic nervous system dysfunction, especially with disturbances of regulating respiration and intestinal mobility. ...For …
Pitt-Hopkins syndrome (PTHS) is a neurodevelopmental disorder characterized by intellectual disability, specific facial featur …
Environmental Exposure during Pregnancy: Influence on Prenatal Development and Early Life: A Comprehensive Review.
Gómez-Roig MD, Pascal R, Cahuana MJ, García-Algar O, Sebastiani G, Andreu-Fernández V, Martínez L, Rodríguez G, Iglesia I, Ortiz-Arrabal O, Mesa MD, Cabero MJ, Guerra L, Llurba E, Domínguez C, Zanini MJ, Foraster M, Larqué E, Cabañas F, Lopez-Azorín M, Pérez A, Loureiro B, Pallás-Alonso CR, Escuder-Vieco D, Vento M. Gómez-Roig MD, et al. Fetal Diagn Ther. 2021;48(4):245-257. doi: 10.1159/000514884. Epub 2021 Mar 18. Fetal Diagn Ther. 2021. PMID: 33735860 Review.
Alcohol use is related to foetal alcohol spectrum disorders, foetal alcohol syndrome being its most extreme form. Smoking is associated with placental abnormalities, preterm birth, stillbirth, or impaired growth and development, as well as with inte …
Alcohol use is related to foetal alcohol spectrum disorders, foetal alcohol syndrome being its most extreme form. Smoking is associat …
Epigenetic Causes of Overgrowth Syndromes.
Lui JC, Baron J. Lui JC, et al. J Clin Endocrinol Metab. 2024 Jan 18;109(2):312-320. doi: 10.1210/clinem/dgad420. J Clin Endocrinol Metab. 2024. PMID: 37450557 Free PMC article. Review.
Human overgrowth disorders are characterized by excessive prenatal and/or postnatal growth of various tissues. These disorders often present with tall stature, macrocephaly, and/or abdominal organomegaly and are sometimes associated with additional phenotypic abnormalities …
Human overgrowth disorders are characterized by excessive prenatal and/or postnatal growth of various tissues. These disorders often …
Child abuse.
Troiano M. Troiano M. Nurs Clin North Am. 2011 Dec;46(4):413-22, v. doi: 10.1016/j.cnur.2011.08.009. Nurs Clin North Am. 2011. PMID: 22055898
Child abuse can have a long-lasting and devastating effect on the growth and development of infants, children, and adolescents. Studies of abused and neglected children indicate that they have a higher rate of delayed intellectual development, p …
Child abuse can have a long-lasting and devastating effect on the growth and development of infants, children, and adol …
Evaluation of DNA Methylation Episignatures for Diagnosis and Phenotype Correlations in 42 Mendelian Neurodevelopmental Disorders.
Aref-Eshghi E, Kerkhof J, Pedro VP; Groupe DI France; Barat-Houari M, Ruiz-Pallares N, Andrau JC, Lacombe D, Van-Gils J, Fergelot P, Dubourg C, Cormier-Daire V, Rondeau S, Lecoquierre F, Saugier-Veber P, Nicolas G, Lesca G, Chatron N, Sanlaville D, Vitobello A, Faivre L, Thauvin-Robinet C, Laumonnier F, Raynaud M, Alders M, Mannens M, Henneman P, Hennekam RC, Velasco G, Francastel C, Ulveling D, Ciolfi A, Pizzi S, Tartaglia M, Heide S, Héron D, Mignot C, Keren B, Whalen S, Afenjar A, Bienvenu T, Campeau PM, Rousseau J, Levy MA, Brick L, Kozenko M, Balci TB, Siu VM, Stuart A, Kadour M, Masters J, Takano K, Kleefstra T, de Leeuw N, Field M, Shaw M, Gecz J, Ainsworth PJ, Lin H, Rodenhiser DI, Friez MJ, Tedder M, Lee JA, DuPont BR, Stevenson RE, Skinner SA, Schwartz CE, Genevieve D, Sadikovic B. Aref-Eshghi E, et al. Am J Hum Genet. 2020 Mar 5;106(3):356-370. doi: 10.1016/j.ajhg.2020.01.019. Epub 2020 Feb 27. Am J Hum Genet. 2020. PMID: 32109418 Free PMC article.
An expanding number of genetic syndromes have been shown to have unique genomic DNA methylation patterns (called "episignatures"). ...We present here an approach to episignature mapping in 42 genetic syndromes, which has allowed the identification of 34 robust disea …
An expanding number of genetic syndromes have been shown to have unique genomic DNA methylation patterns (called "episignatures"). .. …
Mowat-Wilson syndrome.
Garavelli L, Mainardi PC. Garavelli L, et al. Orphanet J Rare Dis. 2007 Oct 24;2:42. doi: 10.1186/1750-1172-2-42. Orphanet J Rare Dis. 2007. PMID: 17958891 Free PMC article. Review.
Mowat-Wilson syndrome (MWS) is a multiple congenital anomaly syndrome characterized by a distinct facial phenotype (high forehead, frontal bossing, large eyebrows, medially flaring and sparse in the middle part, hypertelorism, deep set but large eyes, large and upli …
Mowat-Wilson syndrome (MWS) is a multiple congenital anomaly syndrome characterized by a distinct facial phenotype (high foreh …
Alstrom syndrome.
Marshall JD, Beck S, Maffei P, Naggert JK. Marshall JD, et al. Eur J Hum Genet. 2007 Dec;15(12):1193-202. doi: 10.1038/sj.ejhg.5201933. Epub 2007 Oct 17. Eur J Hum Genet. 2007. PMID: 17940554
Alstrom Syndrome is an autosomal recessive, single gene disorder caused by mutations in ALMS1 (Chr 2p13), a novel gene of currently unknown molecular function. ...Most patients demonstrate normal intelligence, although some reports indicate delayed psychomotor and intel …
Alstrom Syndrome is an autosomal recessive, single gene disorder caused by mutations in ALMS1 (Chr 2p13), a novel gene of currently u …
Rabson-Mendenhall syndrome.
Parveen BA, Sindhuja R. Parveen BA, et al. Int J Dermatol. 2008 Aug;47(8):839-41. doi: 10.1111/j.1365-4632.2008.03591.x. Int J Dermatol. 2008. PMID: 18717867
Rabson mendenhall syndrome is a rare autosomally recessive inherited insulin resistant disorder. ...We report a male patient with all the features of Rabson-Mendenhall syndrome from our institute....
Rabson mendenhall syndrome is a rare autosomally recessive inherited insulin resistant disorder. ...We report a male patient with all …
Genetic disorders associated with postnatal microcephaly.
Seltzer LE, Paciorkowski AR. Seltzer LE, et al. Am J Med Genet C Semin Med Genet. 2014 Jun;166C(2):140-55. doi: 10.1002/ajmg.c.31400. Epub 2014 May 16. Am J Med Genet C Semin Med Genet. 2014. PMID: 24839169 Review.
Several genetic disorders are characterized by normal head size at birth, followed by deceleration in head growth resulting in postnatal microcephaly. Among these are classic disorders such as Angelman syndrome and MECP2-related disorder (formerly Rett syndrome …
Several genetic disorders are characterized by normal head size at birth, followed by deceleration in head growth resulting in postna …
2,083 results