A fragile X sibship from a consanguineous family with a compound heterozygous female and partially methylated full mutation male (Q83843787)

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28 January 2020

title

A fragile X sibship from a consanguineous family with a compound heterozygous female and partially methylated full mutation male (English)

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5

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author name string

Page L Sorensen

1

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Kirin Basuta

2

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Guadalupe Mendoza-Morales

3

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Louise W Gane

4

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Randi Hagerman

6

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Flora Tassone

7

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publication date

9 April 2012

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American Journal of Medical Genetics

28 January 2020

published in

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volume

158A

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page(s)

1221-1224

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issue

5

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Compound heterozygous female with fragile X syndrome.

28 January 2020

cites work

1 reference

12 December 2020

An unusual fragile X sibship: female compound heterozygote and male with a partially methylated full mutation.

1 reference

12 December 2020

Prader-Willi-like phenotype: investigation of 1p36 deletion in 41 patients with delayed psychomotor development, hypotonia, obesity and/or hyperphagia, learning disabilities and behavioral problems

1 reference

12 December 2020

The Autism Diagnostic Observation Schedule: revised algorithms for improved diagnostic validity.

1 reference

12 December 2020

The Prader-Willi phenotype of fragile X syndrome

1 reference

12 December 2020

A rapid polymerase chain reaction-based screening method for identification of all expanded alleles of the fragile X (FMR1) gene in newborn and high-risk populations.

1 reference

12 December 2020

A quantitative ELISA assay for the fragile x mental retardation 1 protein

1 reference

12 December 2020

Maternal Uniparental Disomy 14 Syndrome Demonstrates Prader-Willi Syndrome-Like Phenotype

1 reference

12 December 2020

Examination of FMR1 transcript and protein levels among 74 premutation carriers

1 reference

12 December 2020

1p36 deletion syndrome associated with Prader-Willi-like phenotype.

1 reference

12 December 2020

Four sisters compound heterozygotes for the pre- and full mutation in fragile X syndrome and a complete inactivation of X-functional chromosome: implications for genetic counseling.

1 reference

12 December 2020

Elevated levels of FMR1 mRNA in carrier males: a new mechanism of involvement in the fragile-X syndrome.

1 reference

12 December 2020

Reduced FMRP and increased FMR1 transcription is proportionally associated with CGG repeat number in intermediate-length and premutation carriers.

1 reference

12 December 2020

Compound heterozygosity at the FMR1 gene.

1 reference

12 December 2020

Fragile-X syndrome and skewed X-chromosome inactivation within a family: a female member with complete inactivation of the functional X chromosome.

1 reference

12 December 2020

A study of the distributional characteristics of FMR1 transcript levels in 238 individuals

1 reference

12 December 2020

Mental status of females with an FMR1 gene full mutation

1 reference

12 December 2020

A female compound heterozygote (pre- and full mutation) for the CGG FMR1 expansion.

1 reference

12 December 2020

A new case of interstitial 6q16.2 deletion in a patient with Prader-Willi-like phenotype and investigation of SIM1 gene deletion in 87 patients with syndromic obesity.

1 reference

12 December 2020

Identifiers

DOI

10.1002/AJMG.A.35293

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