(Q73134750)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9061752%20AND%20SRC:MED&resulttype=core&format=json

1 November 2019

review article

1 reference

title

Microdeletion and microduplication syndromes (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9061752%20AND%20SRC:MED&resulttype=core&format=json

1 November 2019

author name string

Malcolm S

series ordinal

1

1 reference

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1 November 2019

publication date

1 December 1996

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9061752%20AND%20SRC:MED&resulttype=core&format=json

1 November 2019

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9061752%20AND%20SRC:MED&resulttype=core&format=json

1 November 2019

volume

16

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9061752%20AND%20SRC:MED&resulttype=core&format=json

1 November 2019

issue

13

1 reference

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1 November 2019

page(s)

1213-1219

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9061752%20AND%20SRC:MED&resulttype=core&format=json

Duplication within chromosome 17p11.2 in 12 families of French ancestry with Charcot-Marie-Tooth disease type 1a. The French CMT Research Group

1 November 2019

cites work

1 reference

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Detection of aberrant DNA methylation in unique Prader-Willi syndrome patients and its diagnostic implications

21 January 2018

1 reference

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Inherited microdeletions in the Angelman and Prader-Willi syndromes define an imprinting centre on human chromosome 15.

21 January 2018

1 reference

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Molecular mechanisms in Angelman syndrome: a survey of 93 patients

21 January 2018

1 reference

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Further evidence for dominant inheritance at the chromosome 15q11-13 locus in familial Angelman syndrome

21 January 2018

1 reference

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Assignment of microsatellite sequences to the region duplicated in CMT1A (17p12): a useful tool for diagnosis

21 January 2018

1 reference

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Molecular diagnosis of the Prader-Willi and Angelman syndromes by detection of parent-of-origin specific DNA methylation in 15q11-13

21 January 2018

1 reference

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Characterization of a methylation imprint in the Prader-Willi syndrome chromosome region

21 January 2018

1 reference

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Prevalence of 22q11 microdeletions in DiGeorge and velocardiofacial syndromes: implications for genetic counselling and prenatal diagnosis

21 January 2018

1 reference

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Modification of 15q11-q13 DNA methylation imprints in unique Angelman and Prader-Willi patients

21 January 2018

1 reference

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Isolation of a putative transcriptional regulator from the region of 22q11 deleted in DiGeorge syndrome, Shprintzen syndrome and familial congenital heart disease

21 January 2018

1 reference

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From the syndrome of Charcot, Marie and Tooth to disorders of peripheral myelin proteins

21 January 2018

1 reference

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De novo mutation of the myelin P0 gene in Dejerine-Sottas disease (hereditary motor and sensory neuropathy type III)

21 January 2018

1 reference

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Mutation of the myelin P0 gene in Charcot-Marie-Tooth neuropathy type 1B.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291097-0223%28199612%2916%3A13%3C1213%3A%3AAID-PD96%3E3.0.CO%3B2-C

Genomic imprinting in an Angelman and Prader-Willi translocation family

21 January 2018

1 reference

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Analysis of the CMT1A-REP repeat: mapping crossover breakpoints in CMT1A and HNPP.

21 January 2018

1 reference

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Angelman and Prader-Willi syndromes share a common chromosome 15 deletion but differ in parental origin of the deletion

21 January 2018

1 reference

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Deletion of the serine 34 codon from the major peripheral myelin protein P0 gene in Charcot-Marie-Tooth disease type 1B

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291097-0223%28199612%2916%3A13%3C1213%3A%3AAID-PD96%3E3.0.CO%3B2-C

Deletions of chromosome 15 as a cause of the Prader-Willi syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291097-0223%28199612%2916%3A13%3C1213%3A%3AAID-PD96%3E3.0.CO%3B2-C

DNA duplication associated with Charcot-Marie-Tooth disease type 1A

21 January 2018

1 reference

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The frequency of uniparental disomy in Prader-Willi syndrome. Implications for molecular diagnosis.

21 January 2018

1 reference

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Peripheral myelin protein-22 gene maps in the duplication in chromosome 17p11.2 associated with Charcot-Marie-Tooth 1A.

21 January 2018

1 reference

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Linkage analysis with chromosome 15q11-13 markers shows genomic imprinting in familial Angelman syndrome

21 January 2018

1 reference

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Multiplex PCR of three dinucleotide repeats in the Prader-Willi/Angelman critical region (15q11-q13): molecular diagnosis and mechanism of uniparental disomy.

21 January 2018

1 reference

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Imprinting analysis of three genes in the Prader-Willi/Angelman region: SNRPN, E6-associated protein, and PAR-2 (D15S225E).

21 January 2018

1 reference

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Rapid screening of myelin genes in CMT1 patients by SSCP analysis: identification of new mutations and polymorphisms in the P0 gene

21 January 2018

1 reference

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Genetic imprinting suggested by maternal heterodisomy in nondeletion Prader-Willi syndrome.

21 January 2018

1 reference

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The gene for the peripheral myelin protein PMP-22 is a candidate for Charcot-Marie-Tooth disease type 1A

21 January 2018

1 reference

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Charcot-Marie-Tooth type 1A duplication appears to arise from recombination at repeat sequences flanking the 1.5 Mb monomer unit

21 January 2018

1 reference

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Duplication in chromosome 17p11.2 in Charcot-Marie-Tooth neuropathy type 1a (CMT 1a)

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291097-0223%28199612%2916%3A13%3C1213%3A%3AAID-PD96%3E3.0.CO%3B2-C

Estimation of the size of the chromosome 17p11.2 duplication in Charcot-Marie-Tooth neuropathy type 1a (CMT1a). HMSN Collaborative Research Group

21 January 2018

1 reference

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A recombination hotspot responsible for two inherited peripheral neuropathies is located near a mariner transposon-like element.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291097-0223%28199612%2916%3A13%3C1213%3A%3AAID-PD96%3E3.0.CO%3B2-C

Myelin protein zero (MPZ) gene mutations in nonduplication type 1 Charcot-Marie-Tooth disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291097-0223%28199612%2916%3A13%3C1213%3A%3AAID-PD96%3E3.0.CO%3B2-C

Uniparental disomy explains the occurrence of the Angelman or Prader-Willi syndrome in patients with an additional small inv dup(15) chromosome

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291097-0223%28199612%2916%3A13%3C1213%3A%3AAID-PD96%3E3.0.CO%3B2-C

Minimal definition of the imprinting center and fixation of chromosome 15q11-q13 epigenotype by imprinting mutations.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291097-0223%28199612%2916%3A13%3C1213%3A%3AAID-PD96%3E3.0.CO%3B2-C

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291097-0223%28199612%2916%3A13%3C1213%3A%3AAID-PD96%3E3.0.CO%3B2-C

Prader-Willi syndrome and Angelman syndrome in cousins from a family with a translocation between chromosomes 6 and 15

21 January 2018

1 reference

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

21 January 2018

1 reference

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Deletions of a differentially methylated CpG island at the SNRPN gene define a putative imprinting control region

21 January 2018

1 reference

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The peripheral myelin protein gene PMP-22 is contained within the Charcot-Marie-Tooth disease type 1A duplication

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291097-0223%28199612%2916%3A13%3C1213%3A%3AAID-PD96%3E3.0.CO%3B2-C

The peripheral myelin gene PMP-22/GAS-3 is duplicated in Charcot-Marie-Tooth disease type 1A

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291097-0223%28199612%2916%3A13%3C1213%3A%3AAID-PD96%3E3.0.CO%3B2-C

DNA diagnosis of Prader-Willi and Angelman syndromes with the probe PW71 (D15S63)

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291097-0223%28199612%2916%3A13%3C1213%3A%3AAID-PD96%3E3.0.CO%3B2-C

Recurrence of DiGeorge syndrome: prenatal detection by FISH of a molecular 22q11 deletion

21 January 2018

1 reference

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10.1002/(SICI)1097-0223(199612)16:13<1213::AID-PD96>3.0.CO;2-C

21 January 2018

Identifiers

DOI

0 references

1 reference