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
1989 2
1994 1
1997 3
1998 1
1999 1
2003 1
2005 1
2006 1
2008 3
2010 1
2012 1
2013 1
2019 1
2024 1

Text availability

Article attribute

Article type

Publication date

Search Results

19 results

Results by year

Filters applied: . Clear all
The following term was not found in PubMed: agenesis-abnormal
Page 1
Genetic malformations of cortical development.
Guerrini R, Marini C. Guerrini R, et al. Exp Brain Res. 2006 Aug;173(2):322-33. doi: 10.1007/s00221-006-0501-z. Epub 2006 May 25. Exp Brain Res. 2006. PMID: 16724181 Review.
Autosomal recessive lissencephaly with cerebellar hypoplasia, accompanied by severe delay, hypotonia, and seizures, has been associated with mutations of the reelin (RELN) gene. X-linked lissencephaly with corpus callosum agenesis and ambiguous genitalia in g …
Autosomal recessive lissencephaly with cerebellar hypoplasia, accompanied by severe delay, hypotonia, and seizures, has been associated with …
Diffuse malformations of cortical development.
Bahi-Buisson N, Guerrini R. Bahi-Buisson N, et al. Handb Clin Neurol. 2013;111:653-65. doi: 10.1016/B978-0-444-52891-9.00068-3. Handb Clin Neurol. 2013. PMID: 23622213 Review.
DCX mutations usually cause anteriorly predominant lissencephaly in males and SBH in female patients. Additional forms are X-linked lissencephaly with corpus callosum agenesis and ambiguous genitalia associated with mutations of the ARX gene. ...Polymicrogyri …
DCX mutations usually cause anteriorly predominant lissencephaly in males and SBH in female patients. Additional forms are X-linked lissence …
[ARX--one gene--many phenotypes].
Lisik M, Sieroń AL. Lisik M, et al. Neurol Neurochir Pol. 2008 Jul-Aug;42(4):338-44. Neurol Neurochir Pol. 2008. PMID: 18975239 Review. Polish.
This is the second most common cause of X-linked mental retardation after fragile X syndrome. The ARX gene belongs to transcription factors involved in differentiation of specific neuronal cells in the central nervous system. ...Described disorders caused by mutations in t …
This is the second most common cause of X-linked mental retardation after fragile X syndrome. The ARX gene belongs to transcription f …
Microlissencephaly.
Sztriha L, Al-Gazali L, Várady E, Nork M, Varughese M. Sztriha L, et al. Pediatr Neurol. 1998 Apr;18(4):362-5. doi: 10.1016/s0887-8994(97)00213-0. Pediatr Neurol. 1998. PMID: 9588537 Review.
An inbred Arab family with three neonates affected by microlissencephaly syndrome is reported. Brain magnetic resonance imaging in the index case revealed very thin brain mantle with agyria-pachygyria, agenesis of the corpus callosum, and hypoplasia of the br …
An inbred Arab family with three neonates affected by microlissencephaly syndrome is reported. Brain magnetic resonance imaging in th …
The KAT6B-related disorders genitopatellar syndrome and Ohdo/SBBYS syndrome have distinct clinical features reflecting distinct molecular mechanisms.
Campeau PM, Lu JT, Dawson BC, Fokkema IF, Robertson SP, Gibbs RA, Lee BH. Campeau PM, et al. Hum Mutat. 2012 Nov;33(11):1520-5. doi: 10.1002/humu.22141. Epub 2012 Jul 12. Hum Mutat. 2012. PMID: 22715153 Free PMC article. Review.
Genitopatellar syndrome (GPS) and Say-Barber-Biesecker-Young-Simpson syndrome (SBBYSS or Ohdo syndrome) have both recently been shown to be caused by distinct mutations in the histone acetyltransferase KAT6B (a.k.a. ...Features present only in GPS are contrac …
Genitopatellar syndrome (GPS) and Say-Barber-Biesecker-Young-Simpson syndrome (SBBYSS or Ohdo syndrome) have both recen …
Neuronal migration disorders, genetics, and epileptogenesis.
Guerrini R, Filippi T. Guerrini R, et al. J Child Neurol. 2005 Apr;20(4):287-99. doi: 10.1177/08830738050200040401. J Child Neurol. 2005. PMID: 15921228 Review.
Autosomal recessive lissencephaly with cerebellar hypoplasia, accompanied by severe delay, hypotonia, and seizures, has been associated with mutations of the reelin (RELN) gene. X-linked lissencephaly with corpus callosum agenesis and ambiguous genitalia in g …
Autosomal recessive lissencephaly with cerebellar hypoplasia, accompanied by severe delay, hypotonia, and seizures, has been associated with …
Fryns syndrome: report on 8 new cases.
Aymé S, Julian C, Gambarelli D, Mariotti B, Luciani A, Sudan N, Maurin N, Philip N, Serville F, Carles D, et al. Aymé S, et al. Clin Genet. 1989 Mar;35(3):191-201. doi: 10.1111/j.1399-0004.1989.tb02927.x. Clin Genet. 1989. PMID: 2650934 Review.
Most patients also have hypoplastic external genitalia and anomalies of internal genitalia (bifid or hypoplastic uterus, immature testes). ...When the brain was examined, more than half were abnormal (Dandy-Walker anomaly and agenesis of corpus callosum
Most patients also have hypoplastic external genitalia and anomalies of internal genitalia (bifid or hypoplastic uterus, immat …
Humero-radial synostosis, microcephaly, short corpus callosum, and abnormal genitalia in sibs.
Guilherme R, Baumann C, Garel C, Huten Y, Oury JF, Delezoide AL. Guilherme R, et al. Am J Med Genet A. 2008 Jul 15;146A(14):1775-80. doi: 10.1002/ajmg.a.32380. Am J Med Genet A. 2008. PMID: 18553517 Review.
We report on two male sib fetuses with humero-radial synostosis and thumb hypoplasia, microcephaly with simplified gyral pattern, short corpus callosum and ambiguous genitalia. The main clinical, anatomopathological and imaging findings are presented and comp …
We report on two male sib fetuses with humero-radial synostosis and thumb hypoplasia, microcephaly with simplified gyral pattern, short c
Further characterisation of ARX-related disorders in females due to inherited or de novo variants.
Gras M, Heide S, Keren B, Valence S, Garel C, Whalen S, Jansen AC, Keymolen K, Stouffs K, Jennesson M, Poirsier C, Lesca G, Depienne C, Nava C, Rastetter A, Curie A, Cuisset L, Des Portes V, Milh M, Charles P, Mignot C, Héron D. Gras M, et al. J Med Genet. 2024 Jan 19;61(2):103-108. doi: 10.1136/jmg-2023-109203. J Med Genet. 2024. PMID: 37879892 Review.
While the clinical spectrum of ARX-related disorders is well described in males, from X linked lissencephaly with abnormal genitalia syndrome to syndromic and non-syndromic intellectual disability (ID), its phenotypic delineation in females is incomple …
While the clinical spectrum of ARX-related disorders is well described in males, from X linked lissencephaly with abnormal genitalia
The ARX story (epilepsy, mental retardation, autism, and cerebral malformations): one gene leads to many phenotypes.
Sherr EH. Sherr EH. Curr Opin Pediatr. 2003 Dec;15(6):567-71. doi: 10.1097/00008480-200312000-00004. Curr Opin Pediatr. 2003. PMID: 14631200 Review.
RECENT FINDINGS: Recent work has demonstrated that mutations in ARX cause X-linked West syndrome, X-linked myoclonic epilepsy with spasticity and intellectual disability, Partington syndrome (mental retardation, ataxia, and dystonia), as well as nonsyndromic forms o …
RECENT FINDINGS: Recent work has demonstrated that mutations in ARX cause X-linked West syndrome, X-linked myoclonic epilepsy with sp …
19 results