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
1984 1
1993 1
2008 2
2010 1
2013 1
2014 4
2015 1
2016 1
2019 1
2020 1
2021 1
2023 1
2024 1

Text availability

Article attribute

Article type

Publication date

Search Results

16 results

Results by year

Filters applied: . Clear all
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). ...Subsequently, the different neurological aspects of MWS (head and brain malformations, epilepsy, sleep disorders, and enteric and peripher …
Mowat-Wilson Syndrome (MWS) (OMIM # 235730) is a rare disorder due to ZEB2 gene defects (heterozygous mutation or deletion). ...Subse …
KMT2C/D COMPASS complex-associated diseases [K(CD)COM-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). ...The p …
Over the last 20 years, mutations in five key COMPASS complex genes have been linked to three human congenital syndromes: Kabuki synd …
Phenotype and genotype in Nicolaides-Baraitser syndrome.
Sousa SB, Hennekam RC; Nicolaides-Baraitser Syndrome International Consortium. Sousa SB, et al. Am J Med Genet C Semin Med Genet. 2014 Sep;166C(3):302-14. doi: 10.1002/ajmg.c.31409. Epub 2014 Aug 28. Am J Med Genet C Semin Med Genet. 2014. PMID: 25169058 Review.
Nicolaides-Baraitser syndrome (NCBRS) is an intellectual disability (ID)/multiple congenital anomalies syndrome caused by non-truncating mutations in the ATPase region of SMARCA2, which codes for one of the two alternative catalytic subunits of the BAF chromatin remodeling …
Nicolaides-Baraitser syndrome (NCBRS) is an intellectual disability (ID)/multiple congenital anomalies syndrome caused by non-truncat …
Auditory and visual processing in Williams syndrome.
Zarchi O, Attias J, Gothelf D. Zarchi O, et al. Isr J Psychiatry Relat Sci. 2010;47(2):125-31. Isr J Psychiatry Relat Sci. 2010. PMID: 20733255 Free article. Review.
Williams syndrome is a neurodevelopmental disorder caused by a deletion on chromosome 7. It is characterized by a range of medical problems in addition to severe impairments in visuospatial processing and oversensitivity to sounds, including hypersensitivity to soun …
Williams syndrome is a neurodevelopmental disorder caused by a deletion on chromosome 7. It is characterized by a range of med …
Prenatal effects of alcohol.
Abel EL. Abel EL. Drug Alcohol Depend. 1984 Sep;14(1):1-10. doi: 10.1016/0376-8716(84)90012-7. Drug Alcohol Depend. 1984. PMID: 6386408 Review.
Central nervous system dysfunction includes mental retardation, the most serious consequence of in utero alcohol exposure, hyperactivity, sleep disorders and miscellaneous behavioral difficulties. If only one or two of these broad characteristics are present and the …
Central nervous system dysfunction includes mental retardation, the most serious consequence of in utero alcohol exposure, hyperactivity, sl …
Deletion of first noncoding exon in ANKRD11 leads to KBG syndrome.
Borja N, Zafeer MF, Rodriguez JA, Morel Swols D, Thorson W, Bademci G, Tekin M. Borja N, et al. Am J Med Genet A. 2023 Apr;191(4):1044-1049. doi: 10.1002/ajmg.a.63119. Epub 2023 Jan 11. Am J Med Genet A. 2023. PMID: 36628575 Review.
Phenotypic features of KBG syndrome include craniofacial anomalies, short stature, cognitive disability and behavioral findings. The syndrome is caused by heterozygous pathogenic single nucleotide variants and indels in ANKRD11, or a heterozygous deletion of 16q24.3 that i …
Phenotypic features of KBG syndrome include craniofacial anomalies, short stature, cognitive disability and behavioral findings. The …
Impact of prenatal alcohol exposure on the newborn and the child.
Coles CD. Coles CD. Clin Obstet Gynecol. 1993 Jun;36(2):255-66. doi: 10.1097/00003081-199306000-00007. Clin Obstet Gynecol. 1993. PMID: 8513623 Review.
This article reviewed the literature concerning the status of affected and exposed neonates and the available information on the developmental course of infants and children. Physical and behavioral characteristics of gestational alcohol exposure were described, and outcom …
This article reviewed the literature concerning the status of affected and exposed neonates and the available information on the development …
Novel de novo mutations in ZBTB20 in Primrose syndrome with congenital hypothyroidism.
Mattioli F, Piton A, Gérard B, Superti-Furga A, Mandel JL, Unger S. Mattioli F, et al. Am J Med Genet A. 2016 Jun;170(6):1626-9. doi: 10.1002/ajmg.a.37645. Epub 2016 Apr 7. Am J Med Genet A. 2016. PMID: 27061120 Review.
The cardinal features of Primrose syndrome (MIM 259050) are dysmorphic facial features, macrocephaly, and intellectual disability, as well as large body size, height and weight, and calcified pinnae. ...Reverse phenotyping showed that this patient presents with classic fea …
The cardinal features of Primrose syndrome (MIM 259050) are dysmorphic facial features, macrocephaly, and intellectual disability, as …
Fetal alcohol spectrum disorders: an overview for pediatric and adolescent care providers.
Senturias YS. Senturias YS. Curr Probl Pediatr Adolesc Health Care. 2014 Apr;44(4):74-81. doi: 10.1016/j.cppeds.2013.12.012. Curr Probl Pediatr Adolesc Health Care. 2014. PMID: 24810409 Review.
Fetal alcohol spectrum disorder (FASD) is a term used to describe the spectrum of conditions associated with prenatal alcohol exposure. These are characterized by facial dysmorphia, growth deficits and central nervous system abnormalities. FASDs are the most common …
Fetal alcohol spectrum disorder (FASD) is a term used to describe the spectrum of conditions associated with prenatal alcohol exposur …
Intellectual disability: definition, etiological factors, classification, diagnosis, treatment and prognosis.
Katz G, Lazcano-Ponce E. Katz G, et al. Salud Publica Mex. 2008;50 Suppl 2:s132-41. doi: 10.1590/s0036-36342008000800005. Salud Publica Mex. 2008. PMID: 18470340 Review.
ETIOLOGY AND CLASSIFICATION: Causal factors related with cognitive disability are multiples and can be classified as follows: Genetic, acquired (congenital and developmental), environmental and sociocultural. Likewise, in relation to the classification, cognitive disabilit …
ETIOLOGY AND CLASSIFICATION: Causal factors related with cognitive disability are multiples and can be classified as follows: Genetic, acqui …
16 results