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

Year Number of Results
1963 1
1970 1
1978 1
1981 1
1984 1
1988 2
1990 2
1991 2
1992 2
1993 7
1994 1
1995 2
1996 3
1997 1
1998 2
1999 3
2000 3
2001 3
2002 3
2003 2
2004 4
2006 1
2007 2
2009 1
2010 2
2011 2
2012 2
2013 1
2014 8
2015 1
2016 9
2017 5
2018 4
2019 4
2020 4
2021 9
2022 1
2023 0

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95 results

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Page 1
Kabuki Syndrome-Clinical Review with Molecular Aspects.
Boniel S, Szymańska K, Śmigiel R, Szczałuba K. Boniel S, et al. Genes (Basel). 2021 Mar 25;12(4):468. doi: 10.3390/genes12040468. Genes (Basel). 2021. PMID: 33805950 Free PMC article. Review.
Kabuki syndrome (KS) is a rare developmental disorder principally comprised of developmental delay, hypotonia and a clearly defined dysmorphism: elongation of the structures surrounding the eyes, a shortened and depressed nose, thinning of the upper li …
Kabuki syndrome (KS) is a rare developmental disorder principally comprised of developmental delay, hypotonia and a cle …
The expanding phenotypes of cohesinopathies: one ring to rule them all!
Piché J, Van Vliet PP, Pucéat M, Andelfinger G. Piché J, et al. Cell Cycle. 2019 Nov;18(21):2828-2848. doi: 10.1080/15384101.2019.1658476. Epub 2019 Sep 13. Cell Cycle. 2019. PMID: 31516082 Free PMC article. Review.
The best characterized cohesinopathy is Cornelia de Lange syndrome (CdLS), in which intellectual and growth retardations are the main phenotypic manifestations. ...This review focuses on non-cohesion-related functions of the cohesin complex, gene dosage effect, epigenetic …
The best characterized cohesinopathy is Cornelia de Lange syndrome (CdLS), in which intellectual and growth retardations are the main …
Baraitser-Winter cerebrofrontofacial syndrome.
Yates TM, Turner CL, Firth HV, Berg J, Pilz DT. Yates TM, et al. Clin Genet. 2017 Jul;92(1):3-9. doi: 10.1111/cge.12864. Epub 2016 Nov 30. Clin Genet. 2017. PMID: 27625340 Review.
Baraitser-Winter cerebrofrontofacial syndrome (BWCFF) (BRWS; MIM #243310, 614583) is a rare developmental disorder affecting multiple organ systems. It is characterised by intellectual disability (mild to severe) and distinctive facial appearance (meto …
Baraitser-Winter cerebrofrontofacial syndrome (BWCFF) (BRWS; MIM #243310, 614583) is a rare developmental disorder affecting m …
Acro-cardio-facial syndrome.
Digilio MC, Dallapiccola B. Digilio MC, et al. Orphanet J Rare Dis. 2010 Sep 29;5:25. doi: 10.1186/1750-1172-5-25. Orphanet J Rare Dis. 2010. PMID: 20920258 Free PMC article. Review.
Acro-cardio-facial syndrome (ACFS) is a rare genetic disorder characterized by split-hand/split-foot malformation (SHFM), facial anomalies, cleft lip/palate, congenital heart defect (CHD), genital anomalies, and mental retardation. ...The differential …
Acro-cardio-facial syndrome (ACFS) is a rare genetic disorder characterized by split-hand/split-foot malformation (SHFM), facial anom …
Eponym: Johanson-Blizzard syndrome.
Rezaei N, Sabbaghian M, Liu Z, Zenker M. Rezaei N, et al. Eur J Pediatr. 2011 Feb;170(2):179-83. doi: 10.1007/s00431-010-1240-5. Epub 2010 Jun 17. Eur J Pediatr. 2011. PMID: 20556422 Review.
The syndrome is characterized by exocrine pancreatic insufficiency and a wide range of additional clinical features, including aplasia or hypoplasia of the alae nasi, oligodontia, sensorineural hearing loss, hypothyroidism, scalp defects, mental retardation, and develop …
The syndrome is characterized by exocrine pancreatic insufficiency and a wide range of additional clinical features, including aplasia or hy …
Neurological Phenotype of Mowat-Wilson Syndrome.
Cordelli DM, Di Pisa V, Fetta A, Garavelli L, Maltoni L, Soliani L, Ricci E. Cordelli DM, et al. Genes (Basel). 2021 Jun 27;12(7):982. doi: 10.3390/genes12070982. Genes (Basel). 2021. PMID: 34199024 Free PMC article. Review.
Mowat-Wilson Syndrome (MWS) (OMIM # 235730) is a rare disorder due to ZEB2 gene defects (heterozygous mutation or deletion). ...MWS is characterized by a specific facial gestalt and multiple musculoskeletal, cardiac, gastrointestinal, and urogenital anomalies …
Mowat-Wilson Syndrome (MWS) (OMIM # 235730) is a rare disorder due to ZEB2 gene defects (heterozygous mutation or deletion). . …
Spliceosomopathies and neurocristopathies: Two sides of the same coin?
Beauchamp MC, Alam SS, Kumar S, Jerome-Majewska LA. Beauchamp MC, et al. Dev Dyn. 2020 Aug;249(8):924-945. doi: 10.1002/dvdy.183. Epub 2020 May 21. Dev Dyn. 2020. PMID: 32315467 Free article. Review.
Patients exhibit microcephaly, micrognathia, malar hypoplasia, external ear anomalies, eye anomalies, psychomotor delay, intellectual disability, limb, and heart defects. Craniofacial malformations in these patients are predominantly found in neural cr …
Patients exhibit microcephaly, micrognathia, malar hypoplasia, external ear anomalies, eye anomalies, psychomotor delay, intellectual …
KMT2C/D COMPASS complex-associated diseases [KCDCOM-ADs]: an emerging class of congenital regulopathies.
Lavery WJ, Barski A, Wiley S, Schorry EK, Lindsley AW. Lavery WJ, et al. Clin Epigenetics. 2020 Jan 10;12(1):10. doi: 10.1186/s13148-019-0802-2. Clin Epigenetics. 2020. PMID: 31924266 Free PMC article. Review.
Over the last 20 years, mutations in five key COMPASS complex genes have been linked to three human congenital syndromes: Kabuki syndrome (type 1 [KMT2D] and 2 [KDM6A]), Rubinstein-Taybi syndrome (type 1 [CBP] and 2 [EP300]), and Kleefstra syndrome type 2 (KMT2C). ...
Over the last 20 years, mutations in five key COMPASS complex genes have been linked to three human congenital syndromes: Kabuki synd …
Cardiac Surgery in Trisomy 13 and 18: A Guide to Clinical Decision-Making.
Carvajal HG, Callahan CP, Miller JR, Rensink BL, Eghtesady P. Carvajal HG, et al. Pediatr Cardiol. 2020 Oct;41(7):1319-1333. doi: 10.1007/s00246-020-02444-6. Epub 2020 Sep 14. Pediatr Cardiol. 2020. PMID: 32924070 Review.
There has been substantial controversy regarding treatment of congenital heart defects in infants with trisomies 13 and 18. Most reports have focused on surgical outcomes versus expectant treatment, and rarely there has been an effort to consolidate existing …
There has been substantial controversy regarding treatment of congenital heart defects in infants with trisomies 13 and …
Eyelash trichomegaly: a systematic review of acquired and congenital aetiologies of lengthened lashes.
Hutchison DM, Duffens A, Yale K, Park A, Cardenas K, Mesinkovska NA. Hutchison DM, et al. J Eur Acad Dermatol Venereol. 2022 Apr;36(4):536-546. doi: 10.1111/jdv.17877. Epub 2021 Dec 31. J Eur Acad Dermatol Venereol. 2022. PMID: 34919300 Review.
Inclusion criteria were defined as (i) human studies involving congenital and acquired diseases in which eyelash trichomegaly is a characteristic or (ii) assessment of trichomegaly as an adverse or desired effect of a medication or procedure. ...Surgical procedures of the …
Inclusion criteria were defined as (i) human studies involving congenital and acquired diseases in which eyelash trichomegaly is a ch …
95 results