(Q51906382)

English

Loss of SLC38A5 and FTSJ1 at Xp11.23 in three brothers with non-syndromic mental retardation due to a microdeletion in an unstable genomic region.

scientific article published on 28 February 2007

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26 December 2019

Loss of SLC38A5 and FTSJ1 at Xp11.23 in three brothers with non-syndromic mental retardation due to a microdeletion in an unstable genomic region (English)

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26 December 2019

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26 December 2019

Hans van Bokhoven

6

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26 December 2019

author name string

Guy Froyen

1

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26 December 2019

Marijke Bauters

2

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26 December 2019

Jackie Boyle

3

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26 December 2019

Hilde Van Esch

4

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26 December 2019

Karen Govaerts

5

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26 December 2019

Hans-Hilger Ropers

7

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26 December 2019

Claude Moraine

8

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26 December 2019

Jamel Chelly

9

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26 December 2019

Jean-Pierre Fryns

10

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26 December 2019

Peter Marynen

11

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26 December 2019

Gillian Turner

13

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26 December 2019

publication date

28 February 2007

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26 December 2019

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26 December 2019

121

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26 December 2019

5

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26 December 2019

539-547

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26 December 2019

https://scigraph.springernature.com/pub.10.1007/s00439-007-0343-1

0 references

A novel gene, FAM11A, associated with the FRAXF CpG island is transcriptionally silent in FRAXF full mutation

1 reference

https://pubmed.ncbi.nlm.nih.gov/17333282

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Identification of novel genes, SYT and SSX, involved in the t(X;18)(p11.2;q11.2) translocation found in human synovial sarcoma

1 reference

https://pubmed.ncbi.nlm.nih.gov/17333282

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Pure de-novo 5 Mb duplication at Xp11.22-p11.23 in a male: phenotypic and molecular characterization.

1 reference

https://pubmed.ncbi.nlm.nih.gov/17333282

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Diagnostic genome profiling in mental retardation

1 reference

https://pubmed.ncbi.nlm.nih.gov/17333282

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

X-linked mental retardation: many genes for a complex disorder

1 reference

https://pubmed.ncbi.nlm.nih.gov/17333282

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Duplication of the MECP2 region is a frequent cause of severe mental retardation and progressive neurological symptoms in males

1 reference

https://pubmed.ncbi.nlm.nih.gov/17333282

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

X chromosome array-CGH for the identification of novel X-linked mental retardation genes.

1 reference

https://pubmed.ncbi.nlm.nih.gov/17333282

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

X-linked mental retardation with seizures and carrier manifestations is caused by a mutation in the creatine-transporter gene (SLC6A8) located in Xq28

1 reference

https://pubmed.ncbi.nlm.nih.gov/17333282

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

X-linked mental retardation

1 reference

https://pubmed.ncbi.nlm.nih.gov/17333282

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

X-linked creatine transporter (SLC6A8) mutations in about 1% of males with mental retardation of unknown etiology.

1 reference

https://pubmed.ncbi.nlm.nih.gov/17333282

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Emerging patterns of cryptic chromosomal imbalance in patients with idiopathic mental retardation and multiple congenital anomalies: a new series of 140 patients and review of published reports

1 reference

https://pubmed.ncbi.nlm.nih.gov/17333282

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Microarray based comparative genomic hybridisation (array-CGH) detects submicroscopic chromosomal deletions and duplications in patients with learning disability/mental retardation and dysmorphic features

1 reference

https://pubmed.ncbi.nlm.nih.gov/17333282

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

A splice site mutation in the methyltransferase gene FTSJ1 in Xp11.23 is associated with non-syndromic mental retardation in a large Belgian family (MRX9)

1 reference

https://pubmed.ncbi.nlm.nih.gov/17333282

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Mutations in the FTSJ1 gene coding for a novel S-adenosylmethionine-binding protein cause nonsyndromic X-linked mental retardation

1 reference

https://pubmed.ncbi.nlm.nih.gov/17333282

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Recent advances in array comparative genomic hybridization technologies and their applications in human genetics

1 reference

https://pubmed.ncbi.nlm.nih.gov/17333282

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Breakpoints of gross deletions coincide with non-B DNA conformations

1 reference

https://pubmed.ncbi.nlm.nih.gov/17333282

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Identification of disease genes by whole genome CGH arrays

1 reference

https://pubmed.ncbi.nlm.nih.gov/17333282

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Role of genomic architecture in PLP1 duplication causing Pelizaeus-Merzbacher disease

1 reference

https://pubmed.ncbi.nlm.nih.gov/17333282

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Methylation of HpaII and HhaI sites near the polymorphic CAG repeat in the human androgen-receptor gene correlates with X chromosome inactivation

1 reference

https://pubmed.ncbi.nlm.nih.gov/17333282

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

High resolution profiling of X chromosomal aberrations by array comparative genomic hybridisation.

1 reference

https://pubmed.ncbi.nlm.nih.gov/17333282

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Advances in X-linked mental retardation

1 reference

https://pubmed.ncbi.nlm.nih.gov/17333282

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Genomic microarrays in human genetic disease and cancer

1 reference

https://pubmed.ncbi.nlm.nih.gov/17333282

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Identifiers

10.1007/S00439-007-0343-1

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17333282%20AND%20SRC:MED&resulttype=core&format=json

26 December 2019

PubMed publication ID

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17333282%20AND%20SRC:MED&resulttype=core&format=json

26 December 2019

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