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

Year Number of Results
1956 2
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1967 11
1968 25
1969 19
1970 24
1971 28
1972 37
1973 31
1974 45
1975 47
1976 38
1977 43
1978 39
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1980 39
1981 45
1982 48
1983 37
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1986 58
1987 65
1988 43
1989 61
1990 76
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1992 96
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1994 121
1995 110
1996 97
1997 93
1998 97
1999 117
2000 127
2001 121
2002 102
2003 112
2004 123
2005 152
2006 143
2007 170
2008 170
2009 175
2010 188
2011 263
2012 293
2013 375
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8,067 results

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Quoted phrase not found in phrase index: "Intellectual disability-feeding difficulties-developmental delay-microcephaly syndrome"
Page 1
ZMYND11-related syndromic intellectual disability: 16 patients delineating and expanding the phenotypic spectrum.
Yates TM, Drucker M, Barnicoat A, Low K, Gerkes EH, Fry AE, Parker MJ, O'Driscoll M, Charles P, Cox H, Marey I, Keren B, Rinne T, McEntagart M, Ramachandran V, Drury S, Vansenne F, Sival DA, Herkert JC, Callewaert B, Tan WH, Balasubramanian M. Yates TM, et al. Hum Mutat. 2020 May;41(5):1042-1050. doi: 10.1002/humu.24001. Epub 2020 Mar 5. Hum Mutat. 2020. PMID: 32097528 Free article.
Pathogenic variants in ZMYND11, which acts as a transcriptional repressor, have been associated with intellectual disability, behavioral abnormalities, and seizures. Only 11 affected individuals have been reported to date, and the phenotype associated with pathogenic varia …
Pathogenic variants in ZMYND11, which acts as a transcriptional repressor, have been associated with intellectual disability, behavio …
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"). .. …
SCAF4-related syndromic intellectual disability.
Carvalho LML, Pinto CF, de Oliveira Scliar M, Otto PA, Krepischi ACV, Rosenberg C. Carvalho LML, et al. Am J Med Genet A. 2023 Feb;191(2):570-574. doi: 10.1002/ajmg.a.63032. Epub 2022 Nov 5. Am J Med Genet A. 2023. PMID: 36333968
The causal link between variants in the SCAF4 gene and a syndromic form of intellectual disability (ID) was established in 2020 by Fliedner et al. ...This is the second study reporting the involvement of SCAF4 in syndromic ID, and the description of the patie …
The causal link between variants in the SCAF4 gene and a syndromic form of intellectual disability (ID) was established in 202 …
Tethered cord syndrome in KBG syndrome.
Hills S, Pugacheva A, Weltin P, Maughan A, Morton SU, Feldman HA, Klinge PM, Agrawal PB. Hills S, et al. Am J Med Genet A. 2023 May;191(5):1222-1226. doi: 10.1002/ajmg.a.63128. Epub 2023 Feb 1. Am J Med Genet A. 2023. PMID: 36722669
TCS is surgically treatable and often found in conjunction with other syndromic conditions. KBG syndrome is caused by variants in the ANKRD11 gene and is characterized by short stature, developmental delay, macrodontia, and a triangular face. ...Patients with KBG we …
TCS is surgically treatable and often found in conjunction with other syndromic conditions. KBG syndrome is caused by variants …
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 …
Genetics and developmental delay.
Macmillan C. Macmillan C. Semin Pediatr Neurol. 1998 Mar;5(1):39-44. doi: 10.1016/s1071-9091(98)80017-x. Semin Pediatr Neurol. 1998. PMID: 9548640 Review.
A secure diagnosis based on molecular evidence has become possible for many syndromes previously only clinically defined, which has helped enormously in predicting children's developmental progress, in allowing knowledgeable surveillance for potential associated health pro …
A secure diagnosis based on molecular evidence has become possible for many syndromes previously only clinically defined, which has h …
Management of craniosynostoses.
Renier D, Lajeunie E, Arnaud E, Marchac D. Renier D, et al. Childs Nerv Syst. 2000 Nov;16(10-11):645-58. doi: 10.1007/s003810000320. Childs Nerv Syst. 2000. PMID: 11151714 Review.
In nonsyndromic cases, the higher risks are observed in multisutural craniosynostoses (brachycephaly, oxycephaly). In syndromic cases, the risk of intracranial hypertension is higher in Crouzon syndrome, and Apert syndrome carries the higher risk of mental re …
In nonsyndromic cases, the higher risks are observed in multisutural craniosynostoses (brachycephaly, oxycephaly). In syndromic cases …
Reprogramming of the epigenome in neurodevelopmental disorders.
Wilson KD, Porter EG, Garcia BA. Wilson KD, et al. Crit Rev Biochem Mol Biol. 2022 Feb;57(1):73-112. doi: 10.1080/10409238.2021.1979457. Epub 2021 Oct 2. Crit Rev Biochem Mol Biol. 2022. PMID: 34601997 Free PMC article. Review.
Notably, chromatin regulation has emerged as highly dysregulated in NDDs, with many syndromes demonstrating phenotypic overlap, such as intellectual disabilities, with one another. ...Moreover, this review focuses on disorders associated with mutations in enzymes in …
Notably, chromatin regulation has emerged as highly dysregulated in NDDs, with many syndromes demonstrating phenotypic overlap, such …
Sneddon's syndrome.
Scott IA, Boyle RS. Scott IA, et al. Aust N Z J Med. 1986 Dec;16(6):799-802. doi: 10.1111/j.1445-5994.1986.tb00041.x. Aust N Z J Med. 1986. PMID: 3471198
A 24 year old woman presented with generalised livedo reticularis and progressive intellectual decline. A CT scan of her head showed multifocal low density areas, consistent with cerebral infarction. Cerebral angiography revealed occlusive disease of major vessels, an arte …
A 24 year old woman presented with generalised livedo reticularis and progressive intellectual decline. A CT scan of her head showed …
Expanding the pre- and postnatal phenotype of WASHC5 and CCDC22 -related Ritscher-Schinzel syndromes.
Neri S, Maia N, Fortuna AM, Damasio J, Coale E, Willis M, Jorge P, Højte AF, Fenger CD, Møller RS, Bayat A. Neri S, et al. Eur J Med Genet. 2022 Nov;65(11):104624. doi: 10.1016/j.ejmg.2022.104624. Epub 2022 Sep 18. Eur J Med Genet. 2022. PMID: 36130690
Ritscher-Schinzel syndrome (RTSCS) is a rare genetic condition characterized by peculiar craniofacial features and cerebellar and cardiovascular malformations. ...The first two genes described were the autosomal recessive inherited gene WASHC5 associated with Ritscher-Schi …
Ritscher-Schinzel syndrome (RTSCS) is a rare genetic condition characterized by peculiar craniofacial features and cerebellar and car …
8,067 results