(Q37433978)

20 August 2017

1 reference

title

Balanced translocations in mental retardation (English)

1 reference

20 August 2017

Geert Vandeweyer

1

1 reference

20 August 2017

R Frank Kooy

series ordinal

2

1 reference

20 August 2017

publication date

5 April 2009

1 reference

20 August 2017

1 reference

20 August 2017

volume

126

1 reference

20 August 2017

issue

1

1 reference

20 August 2017

page(s)

133-147

1 reference

https://scigraph.springernature.com/pub.10.1007/s00439-009-0661-6

20 August 2017

exact match

0 references

cites work

The de novo chromosome 16 translocations of two patients with abnormal phenotypes (mental retardation and epilepsy) disrupt the A2BP1 gene.

1 reference

Crossref

https://api.crossref.org/works/10.1007%2FS00439-009-0661-6

De novo balanced translocation (2;10)(q24;q22) associated with mental retardation.

21 January 2018

1 reference

Crossref

https://api.crossref.org/works/10.1007%2FS00439-009-0661-6

Disruption of the TCF4 gene in a girl with mental retardation but without the classical Pitt-Hopkins syndrome

21 January 2018

1 reference

12 December 2020

A balanced chromosomal translocation disrupting ARHGEF9 is associated with epilepsy, anxiety, aggression, and mental retardation

1 reference

12 December 2020

Abnormal childhood phenotypes associated with the same balanced chromosome rearrangements as in the parents

1 reference

12 December 2020

Telomeres: a diagnosis at the end of the chromosomes

1 reference

12 December 2020

Discovery of previously unidentified genomic disorders from the duplication architecture of the human genome

1 reference

12 December 2020

Inactivation of the CDKL3 gene at 5q31.1 by a balanced t(X;5) translocation associated with nonspecific mild mental retardation

1 reference

12 December 2020

Oligophrenin-1 encodes a rhoGAP protein involved in X-linked mental retardation

1 reference

12 December 2020

Haploinsufficiency of the GPD2 gene in a patient with nonsyndromic mental retardation

1 reference

12 December 2020

Noncoding RNAs in Long-Term Memory Formation

1 reference

12 December 2020

De novo balanced chromosome rearrangements and extra marker chromosomes identified at prenatal diagnosis: clinical significance and distribution of breakpoints

1 reference

12 December 2020

De novo reciprocal 1p;2q translocation in a child with multiple congenital anomalies/mental retardation syndrome

1 reference

12 December 2020

Cytogenetic findings in 200 children with mental retardation and multiple congenital anomalies of unknown cause.

1 reference

12 December 2020

The epidemiology of mental retardation: challenges and opportunities in the new millennium

1 reference

12 December 2020

Point mutations in human GLI3 cause Greig syndrome.

1 reference

12 December 2020

The reelin and GAD67 promoters are activated by epigenetic drugs that facilitate the disruption of local repressor complexes

1 reference

12 December 2020

De novo occurrence of 46,XX,t(4;13) (q31;q14) in a mentally retarded girl

1 reference

12 December 2020

Another example favouring the location of BPES at 3q2.

1 reference

12 December 2020

Breakpoint mapping and array CGH in translocations: comparison of a phenotypically normal and an abnormal cohort

1 reference

12 December 2020

The IC-SNURF-SNRPN transcript serves as a host for multiple small nucleolar RNA species and as an antisense RNA for UBE3A

1 reference

12 December 2020

The elastin gene is disrupted in a family with a balanced translocation t(7;16)(q11.23;q13) associated with a variable expression of the Williams-Beuren syndrome.

1 reference

12 December 2020

Blepharophimosis, ptosis, epicanthus inversus syndrome, a new case associated with de novo balanced autosomal translocation [46,XY,t(3;7)(q23;q32)]

1 reference

12 December 2020

Cohen syndrome and de novo reciprocal translocation t(5;7)(q33.1;p15.1).

1 reference

12 December 2020

Molecular cytogenetic characterization of a subtle interstitial del(3)(p25.3p26.2) in a patient with deletion 3p syndrome

1 reference

12 December 2020

CALL interrupted in a patient with non-specific mental retardation: gene dosage-dependent alteration of murine brain development and behavior.

1 reference

12 December 2020

Candidate region for Coffin-Siris syndrome at 7q32-->34.

1 reference

12 December 2020

Mutations in SIP1, encoding Smad interacting protein-1, cause a form of Hirschsprung disease

1 reference

12 December 2020

Clinical experience with balanced reciprocal translocations.

1 reference

12 December 2020

FISH mapping of de novo apparently balanced chromosome rearrangements identifies characteristics associated with phenotypic abnormality

1 reference

12 December 2020

Noncoding RNAs in the brain.

1 reference

12 December 2020

Assaying the regulatory potential of mammalian conserved non-coding sequences in human cells

1 reference

12 December 2020

Discovery of a previously unrecognized microdeletion syndrome of 16p11.2-p12.2.

1 reference

12 December 2020

Malformative syndrome with trigonocephaly, shallow orbits, ptosis, growth and mental retardation. De novo autosomal reciprocal t(9;13)(Q32;Q22) in a male patient.

1 reference

12 December 2020

Disruption of contactin 4 (CNTN4) results in developmental delay and other features of 3p deletion syndrome

1 reference

12 December 2020

Balanced translocation 46,XY,t(2;15)(q37.2;q11.2) associated with atypical Prader-Willi syndrome

1 reference

12 December 2020

Disruption of TCBA1 associated with a de novo t(1;6)(q32.2;q22.3) presenting in a child with developmental delay and recurrent infections

1 reference

12 December 2020

The prevalence of mental retardation: a critical review of recent literature.

1 reference

12 December 2020

A de novo t (X;8)(p11.2;q24.3) demonstrating Cornelia de Lange syndrome phenotype

1 reference

12 December 2020

Reciprocal fusion transcripts of two novel Zn-finger genes in a female with absence of the corpus callosum, ocular colobomas and a balanced translocation between chromosomes 2p24 and 9q32.

1 reference

12 December 2020

Cloning and characterization of DXS6673E, a candidate gene for X-linked mental retardation in Xq13.1

1 reference

12 December 2020

Frequency of rare fragile sites among mentally subnormal schoolchildren

1 reference

12 December 2020

Genetic syndromes among individuals with mental retardation.

1 reference

12 December 2020

Balanced translocation in a patient with severe myoclonic epilepsy of infancy disrupts the sodium channel gene SCN1A.

1 reference

12 December 2020

Chromosome 2q37 deletion: clinical and molecular aspects

1 reference

12 December 2020

A dynamic study in two new cases of X chromosome translocations

1 reference

12 December 2020

12;14 translocation in Coffin Siris syndrome

1 reference

12 December 2020

Cloning of the breakpoints of a submicroscopic deletion in an Angelman syndrome patient.

1 reference

12 December 2020

Identification of SATB2 as the cleft palate gene on 2q32-q33.

1 reference

12 December 2020

A novel CNS gene required for neuronal migration and involved in X-linked subcortical laminar heterotopia and lissencephaly syndrome

1 reference

12 December 2020

The Lowe's oculocerebrorenal syndrome gene encodes a protein highly homologous to inositol polyphosphate-5-phosphatase

1 reference

12 December 2020

Mutations in the X-linked cyclin-dependent kinase-like 5 (CDKL5/STK9) gene are associated with severe neurodevelopmental retardation

1 reference

12 December 2020

Translocation 19;Y in a child with Bannayan-Zonana phenotype

1 reference

12 December 2020

The novel Rho-GTPase activating gene MEGAP/ srGAP3 has a putative role in severe mental retardation

1 reference

12 December 2020

A mentally retarded child with a translocation involving chromosomes 12 and 19

1 reference

12 December 2020

XLMR genes: update 2007.

1 reference

12 December 2020

A recurrent 15q13.3 microdeletion syndrome associated with mental retardation and seizures

1 reference

12 December 2020

Haploinsufficiency of NSD1 causes Sotos syndrome

1 reference

12 December 2020

Zinc finger 81 (ZNF81) mutations associated with X-linked mental retardation

1 reference

12 December 2020

Gross congenital abnormality associated with an apparently balanced chromosomal translocation g(9;17)(q34;q11)

1 reference

12 December 2020

Mutations in ARHGEF6, encoding a guanine nucleotide exchange factor for Rho GTPases, in patients with X-linked mental retardation

1 reference

12 December 2020

Identification of a novel recessive RELN mutation using a homozygous balanced reciprocal translocation.

1 reference

12 December 2020

Dedicator of cytokinesis 8 is disrupted in two patients with mental retardation and developmental disabilities

1 reference

12 December 2020

Temtamy-like syndrome associated with translocation of 2p24 and 9q32

1 reference

12 December 2020

Disruption of the clathrin heavy chain-like gene (CLTCL) associated with features of DGS/VCFS: a balanced (21;22)(p12;q11) translocation.

1 reference

12 December 2020

Mutations of CDKL5 cause a severe neurodevelopmental disorder with infantile spasms and mental retardation.

1 reference

12 December 2020

Systematic characterisation of disease associated balanced chromosome rearrangements by FISH: cytogenetically and genetically anchored YACs identify microdeletions and candidate regions for mental retardation genes

1 reference

12 December 2020

Truncation of the CNS-expressed JNK3 in a patient with a severe developmental epileptic encephalopathy

1 reference

12 December 2020

Chromosomal studies of children with developmental language retardation.

1 reference

12 December 2020

Truncation of the Down syndrome candidate gene DYRK1A in two unrelated patients with microcephaly

1 reference

12 December 2020

A case of 46,XY,t(1;13) (q24;q32) with mental retardation.

1 reference

12 December 2020

A familial reciprocal translocation t(3;7) (p21.1;p13) associated with the Greig polysyndactyly-craniofacial anomalies syndrome

1 reference

12 December 2020

Mutations in ionotropic AMPA receptor 3 alter channel properties and are associated with moderate cognitive impairment in humans

1 reference

12 December 2020

ARHGEF9 disruption in a female patient is associated with X linked mental retardation and sensory hyperarousal

1 reference

12 December 2020

Subtelomere FISH in 50 children with mental retardation and minor anomalies, identified by a checklist, detects 10 rearrangements including a de novo balanced translocation of chromosomes 17p13.3 and 20q13.33.

1 reference

12 December 2020

Rubinstein-Taybi syndrome caused by a De Novo reciprocal translocation t(2;16)(q36.3;p13.3).

1 reference

12 December 2020

Identification of translocation chromosomes by quinacrine fluorescence.

1 reference

12 December 2020

Tightly linked flanking markers for the Lowe oculocerebrorenal syndrome, with application to carrier assessment

1 reference

12 December 2020

Functional hemizygosity of PAFAH1B3 due to a PAFAH1B3-CLK2 fusion gene in a female with mental retardation, ataxia and atrophy of the brain

1 reference

12 December 2020

Exclusion of SNRPN as a major determinant of Prader-Willi syndrome by a translocation breakpoint

1 reference

12 December 2020

FOXL2 and BPES: mutational hotspots, phenotypic variability, and revision of the genotype-phenotype correlation

1 reference

12 December 2020

Rubinstein-Taybi syndrome caused by mutations in the transcriptional co-activator CBP

1 reference

12 December 2020

Autism and multiple exostoses associated with an X;8 translocation occurring within the GRPR gene and 3' to the SDC2 gene

1 reference

12 December 2020

Loss-of-function mutations in SIP1 Smad interacting protein 1 result in a syndromic Hirschsprung disease

1 reference

12 December 2020

Elastin point mutations cause an obstructive vascular disease, supravalvular aortic stenosis

1 reference

12 December 2020

Disruption of the serine/threonine kinase 9 gene causes severe X-linked infantile spasms and mental retardation

1 reference

12 December 2020

A girl with 46, XX, t(1;15) karyotype. Cytogenetic and clinical observations

1 reference

12 December 2020

Characterization of apparently balanced chromosomal rearrangements from the developmental genome anatomy project

1 reference

12 December 2020

Spectrum of mutations in the OCRL1 gene in the Lowe oculocerebrorenal syndrome

1 reference

12 December 2020

Evidence for the role of PWCR1/HBII-85 C/D box small nucleolar RNAs in Prader-Willi syndrome

1 reference

12 December 2020

Linkage and physical mapping of X-linked lissencephaly/SBH (XLIS): a gene causing neuronal migration defects in human brain.

1 reference

12 December 2020

GLI3 frameshift mutations cause autosomal dominant Pallister-Hall syndrome

1 reference

12 December 2020

Mutations in the ZNF41 gene are associated with cognitive deficits: identification of a new candidate for X-linked mental retardation

1 reference

12 December 2020

Mental retardation associated with "balanced" chromosome rearrangements

1 reference

12 December 2020

The complex nature of constitutional de novo apparently balanced translocations in patients presenting with abnormal phenotypes

1 reference

12 December 2020

A new gene involved in X-linked mental retardation identified by analysis of an X;2 balanced translocation.

1 reference

12 December 2020

Apparently balanced t(1;7)(q21.3;q34) in an infant with Coffin-Siris syndrome.

1 reference

12 December 2020

Molecular and clinical analyses of Greig cephalopolysyndactyly and Pallister-Hall syndromes: robust phenotype prediction from the type and position of GLI3 mutations

1 reference

12 December 2020

Disruption of Netrin G1 by a balanced chromosome translocation in a girl with Rett syndrome.

1 reference

12 December 2020

Characterization of the human glutamate receptor subunit 3 gene (GRIA3), a candidate for bipolar disorder and nonspecific X-linked mental retardation

1 reference

12 December 2020

Molecular breakpoint cloning and gene expression studies of a novel translocation t(4;15)(q27;q11.2) associated with Prader-Willi syndrome

1 reference

12 December 2020

Detection of subtle reciprocal translocations by fluorescence in situ hybridization

1 reference

12 December 2020

Effect of balanced X/autosome translocations on sexual and physical development. A personal experience in 4 patients

1 reference

12 December 2020

Prader-Willi phenotype caused by paternal deficiency for the HBII-85 C/D box small nucleolar RNA cluster

1 reference

12 December 2020

A translocation breakpoint disrupts the ASPM gene in a patient with primary microcephaly

1 reference

12 December 2020

A translocation breakpoint cluster disrupts the newly defined 3' end of the SNURF-SNRPN transcription unit on chromosome 15

1 reference

12 December 2020

The prevalence of chromosome abnormalities among mentally retarded persons in a geographically delimited area of Denmark

1 reference

12 December 2020

Greig syndrome in a large kindred due to reciprocal chromosome translocation t(6;7)(q27;p13).

1 reference

12 December 2020

Loss of ZDHHC15 expression in a woman with a balanced translocation t(X;15)(q13.3;cen) and severe mental retardation.

1 reference

12 December 2020

Prader-Willi syndrome is caused by disruption of the SNRPN gene

1 reference

12 December 2020

Mutations in autism susceptibility candidate 2 (AUTS2) in patients with mental retardation.

1 reference

12 December 2020

A new chromosome 17q21.31 microdeletion syndrome associated with a common inversion polymorphism.

1 reference

12 December 2020

Presumably balanced translocations involving the same band of chromosome No. 4 found in two mentally retarded, dysmorphic individuals

1 reference

12 December 2020

Sorting nexin 3 (SNX3) is disrupted in a patient with a translocation t(6;13)(q21;q12) and microcephaly, microphthalmia, ectrodactyly, prognathism (MMEP) phenotype

1 reference

12 December 2020

Mapping of the X-breakpoint involved in a balanced X;12 translocation in a female with mild mental retardation.

1 reference

12 December 2020

Microdeletion encompassing MAPT at chromosome 17q21.3 is associated with developmental delay and learning disability

1 reference

12 December 2020

Disruption of the gene Euchromatin Histone Methyl Transferase1 (Eu-HMTase1) is associated with the 9q34 subtelomeric deletion syndrome.

1 reference

12 December 2020

Excess of mental retardation and/or congenital malformation in reciprocal translocations in man.

1 reference

12 December 2020

A new paradigm for West syndrome based on molecular and cell biology

1 reference

12 December 2020

Retinal cone dysfunction and mental retardation associated with a de novo balanced translocation 1;6(q44;q27).

1 reference

12 December 2020

Diverse chromosome breakage mechanisms underlie subtelomeric rearrangements, a common cause of mental retardation.

1 reference

12 December 2020

Evaluation of mental retardation: recommendations of a Consensus Conference: American College of Medical Genetics

1 reference

12 December 2020

Molecular Cytogenetic Evaluation in a Patient with a Translocation (3;21) Associated with Blepharophimosis, Ptosis, Epicanthus Inversus Syndrome (BPES)

1 reference

12 December 2020

Fragile chromosome 16(q22) cause a balanced translocation at the same point

1 reference

12 December 2020

Identification of a novel gene on chromosome 7q11.2 interrupted by a translocation breakpoint in a pair of autistic twins

1 reference

12 December 2020

New perspectives for the elucidation of genetic disorders

1 reference

12 December 2020

Breakage in the SNRPN locus in a balanced 46,XY,t(15;19) Prader-Willi syndrome patient

1 reference

12 December 2020

Correlation between euploid structural chromosome rearrangements and mental subnormality in humans.

1 reference

12 December 2020

X-linked Cornelia de Lange syndrome owing to SMC1L1 mutations

1 reference

12 December 2020

Median cleft of upper lip and pedunculated skin masses associated with de novo reciprocal translocation 46,X,t(X;16)(q28;q11.2).

1 reference

12 December 2020

Disruptions of the novel KIAA1202 gene are associated with X-linked mental retardation

1 reference

12 December 2020

A t(4;9)(q34;p22) translocation associated with partial epilepsy, mental retardation, and dysmorphism.

1 reference

12 December 2020

Initial sequencing and analysis of the human genome

1 reference

12 December 2020

Disruption of the ProSAP2 gene in a t(12;22)(q24.1;q13.3) is associated with the 22q13.3 deletion syndrome

1 reference

12 December 2020

Loss-of-function mutations in euchromatin histone methyl transferase 1 (EHMT1) cause the 9q34 subtelomeric deletion syndrome

1 reference

12 December 2020

Follow-up of 32 children with autosomal translocations found among 11,148 consecutively newborn children from 1969 to 1974.

1 reference

12 December 2020

10.1007/S00439-009-0661-6

Identifiers

DOI

1 reference

20 August 2017

1 reference