Skip to main page content
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

Https

The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation

Search Page

Filters

My NCBI Filters

Results by year

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

Year Number of Results
1977 1
1979 1
1980 1
1981 1
1984 1
1993 2
1994 2
1995 1
2001 1
2002 1
2004 2
2005 1
2006 3
2007 1
2009 2
2010 3
2011 3
2012 1
2013 2
2014 3
2015 4
2016 3
2017 2
2018 4
2019 2
2020 4
2021 2
2024 1

Text availability

Article attribute

Article type

Publication date

Search Results

50 results

Results by year

Filters applied: . Clear all
Quoted phrase not found in phrase index: "Neurodevelopmental disorder with microcephaly and dysmorphic facies"
Page 1
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). ...The nervous system involvement is extensive and constitutes one of the main features in MWS, heavily affecting prognosis and life quality …
Mowat-Wilson Syndrome (MWS) (OMIM # 235730) is a rare disorder due to ZEB2 gene defects (heterozygous mutation or deletion). ...The n …
Neuropathology of Mowat-Wilson Syndrome.
Conces MR, Hughes A, Pierson CR. Conces MR, et al. Pediatr Dev Pathol. 2020 Aug;23(4):322-325. doi: 10.1177/1093526620903956. Epub 2020 Apr 6. Pediatr Dev Pathol. 2020. PMID: 32252596
Mowat-Wilson syndrome (MWS) is a syndromic form of Hirschsprung disease that is characterized by variable degrees of intellectual disability, characteristic facial dysmorphism, and a diverse set of other congenital malformations due to haploinsufficiency of ZEB2. .. …
Mowat-Wilson syndrome (MWS) is a syndromic form of Hirschsprung disease that is characterized by variable degrees of intellectual disability …
Supernumeraries in Nicolaides-Baraitser Syndrome.
Al-Tamimi B, Abela S, Jeremiah HG, Evans RD. Al-Tamimi B, et al. Int J Paediatr Dent. 2017 Nov;27(6):583-587. doi: 10.1111/ipd.12309. Epub 2017 Jun 21. Int J Paediatr Dent. 2017. PMID: 28635076
NCBRS is a distinct clinical condition with typical clinical features of pre- and post-natal global developmental delay, impaired speech, and seizures. Microcephaly, sparse hair, anteverted alae nasi, undefined philtrum, prominence of distal phalanges and interphalangeal j …
NCBRS is a distinct clinical condition with typical clinical features of pre- and post-natal global developmental delay, impaired speech, an …
Phenotype and genotype of 87 patients with Mowat-Wilson syndrome and recommendations for care.
Ivanovski I, Djuric O, Caraffi SG, Santodirocco D, Pollazzon M, Rosato S, Cordelli DM, Abdalla E, Accorsi P, Adam MP, Ajmone PF, Badura-Stronka M, Baldo C, Baldi M, Bayat A, Bigoni S, Bonvicini F, Breckpot J, Callewaert B, Cocchi G, Cuturilo G, De Brasi D, Devriendt K, Dinulos MB, Hjortshøj TD, Epifanio R, Faravelli F, Fiumara A, Formisano D, Giordano L, Grasso M, Grønborg S, Iodice A, Iughetti L, Kuburovic V, Kutkowska-Kazmierczak A, Lacombe D, Lo Rizzo C, Luchetti A, Malbora B, Mammi I, Mari F, Montorsi G, Moutton S, Møller RS, Muschke P, Nielsen JEK, Obersztyn E, Pantaleoni C, Pellicciari A, Pisanti MA, Prpic I, Poch-Olive ML, Raviglione F, Renieri A, Ricci E, Rivieri F, Santen GW, Savasta S, Scarano G, Schanze I, Selicorni A, Silengo M, Smigiel R, Spaccini L, Sorge G, Szczaluba K, Tarani L, Tone LG, Toutain A, Trimouille A, Valera ET, Vergano SS, Zanotta N, Zenker M, Conidi A, Zollino M, Rauch A, Zweier C, Garavelli L. Ivanovski I, et al. Genet Med. 2018 Sep;20(9):965-975. doi: 10.1038/gim.2017.221. Epub 2018 Jan 4. Genet Med. 2018. PMID: 29300384 Free article.
PURPOSE: Mowat-Wilson syndrome (MWS) is a rare intellectual disability/multiple congenital anomalies syndrome caused by heterozygous mutation of the ZEB2 gene. ...We described the prevalence of all clinical aspects, including attainment of neurodevelopmental milesto …
PURPOSE: Mowat-Wilson syndrome (MWS) is a rare intellectual disability/multiple congenital anomalies syndrome caused by heterozygous …
Mowat Wilson syndrome and Hirschsprung disease: a retrospective study on functional outcomes.
Dagorno C, Pio L, Capri Y, Ali L, Giurgea I, Qoshe L, Morcrette G, Julien-Marsollier F, Sommet J, Chomton M, Berrebi D, Bonnard A. Dagorno C, et al. Pediatr Surg Int. 2020 Nov;36(11):1309-1315. doi: 10.1007/s00383-020-04751-8. Epub 2020 Sep 27. Pediatr Surg Int. 2020. PMID: 32980962
AIM OF THE STUDY: Mowat Wilson syndrome (MWS) is a complex genetic disorder due to mutation or deletion of the ZEB2 gene (ZFHX1B), including multiple clinical features. ...
AIM OF THE STUDY: Mowat Wilson syndrome (MWS) is a complex genetic disorder due to mutation or deletion of the ZEB2 gene (ZFHX1B), in …
Variants in HNRNPH2 on the X Chromosome Are Associated with a Neurodevelopmental Disorder in Females.
Bain JM, Cho MT, Telegrafi A, Wilson A, Brooks S, Botti C, Gowans G, Autullo LA, Krishnamurthy V, Willing MC, Toler TL, Ben-Zev B, Elpeleg O, Shen Y, Retterer K, Monaghan KG, Chung WK. Bain JM, et al. Am J Hum Genet. 2016 Sep 1;99(3):728-734. doi: 10.1016/j.ajhg.2016.06.028. Epub 2016 Aug 18. Am J Hum Genet. 2016. PMID: 27545675 Free PMC article.
Via whole-exome sequencing, we identified six females from independent families with a common neurodevelopmental phenotype including developmental delay, intellectual disability, autism, hypotonia, and seizures, all with de novo predicted deleterious variants in the …
Via whole-exome sequencing, we identified six females from independent families with a common neurodevelopmental phenotype including …
Clinical and genetic heterogeneity in Dubowitz syndrome: Implications for diagnosis, management and further research.
Innes AM, McInnes BL, Dyment DA. Innes AM, et al. Am J Med Genet C Semin Med Genet. 2018 Dec;178(4):387-397. doi: 10.1002/ajmg.c.31661. Am J Med Genet C Semin Med Genet. 2018. PMID: 30580484
Dubowitz syndrome was described in 1965 as a recognizable syndrome characterized by microcephaly, short stature, eczema, mild developmental delays, and an increased risk of malignancy. ...Seven individuals had deleterious copy number variants, in particular deletions at 14 …
Dubowitz syndrome was described in 1965 as a recognizable syndrome characterized by microcephaly, short stature, eczema, mild develop …
Three additional de novo CTCF mutations in Chinese patients help to define an emerging neurodevelopmental disorder.
Chen F, Yuan H, Wu W, Chen S, Yang Q, Wang J, Zhang Q, Gui B, Fan X, Chen R, Shen Y. Chen F, et al. Am J Med Genet C Semin Med Genet. 2019 Jun;181(2):218-225. doi: 10.1002/ajmg.c.31698. Epub 2019 Mar 20. Am J Med Genet C Semin Med Genet. 2019. PMID: 30893510
The new evidence helped to establish the clinical validity between CTCF and the emerging disorder. We described the consistent phenotypes shared by all patients and revealed additional clinical features such as delayed or abnormal teeth development and a unique pattern of …
The new evidence helped to establish the clinical validity between CTCF and the emerging disorder. We described the consistent phenot …
A fourth case of Feingold syndrome type 2: psychiatric presentation and management.
Ganjavi H, Siu VM, Speevak M, MacDonald PA. Ganjavi H, et al. BMJ Case Rep. 2014 Nov 12;2014:bcr2014207501. doi: 10.1136/bcr-2014-207501. BMJ Case Rep. 2014. PMID: 25391829 Free PMC article. Review.
It is characterised by microcephaly, digital abnormalities, oesophageal and duodenal atresias, and often learning disability or mental retardation. ...We describe the presentation and management of a fourth known case of FGLDS2 in an 18-year-old girl with microce …
It is characterised by microcephaly, digital abnormalities, oesophageal and duodenal atresias, and often learning disability o …
50 results