Gonadal mosaicism and familial adenomatous polyposis (Q34715676)

4 August 2017

title

Gonadal mosaicism and familial adenomatous polyposis (English)

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4 August 2017

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Angela L Schwab

1

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Thérèse M F Tuohy

2

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Michelle Condie

3

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Deborah W Neklason

4

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Randall W Burt

5

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4 August 2017

publication date

18 November 2007

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volume

7

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issue

2

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page(s)

173-177

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Frequency and parental origin of de novo APC mutations in familial adenomatous polyposis

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cites work

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12 December 2020

Somatic APC mosaicism: an underestimated cause of polyposis coli.

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12 December 2020

Paternal gonadal mosaicism of NIPBL mutation in a father of siblings with Cornelia de Lange syndrome

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12 December 2020

Thyroid carcinoma usually occurs in patients with familial adenomatous polyposis in the absence of biallelic inactivation of the adenomatous polyposis coli gene

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12 December 2020

Mosaicism and sporadic familial adenomatous polyposis

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12 December 2020

Somatic and germline mosaicisms in Severe Myoclonic Epilepsy of Infancy

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12 December 2020

Screening guidelines and premorbid diagnosis of familial adenomatous polyposis using linkage

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12 December 2020

Genetic counselling on brittle grounds: recurring osteogenesis imperfecta due to parental mosaicism for a dominant mutation

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12 December 2020

Paternal gonadal mosaicism detected in a couple with recurrent abortions undergoing PGD: FISH analysis of sperm nuclei proves valuable

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12 December 2020

Somatic APC mosaicism: a frequent cause of familial adenomatous polyposis (FAP).

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12 December 2020

Spontaneous mutation in familial adenomatous polyposis

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12 December 2020

Gastric fundic gland polyps

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Parental mosaicism and autosomal dominant mutations causing structural abnormalities of collagen I are frequent in families with osteogenesis imperfecta type III/IV

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12 December 2020

Mutation nomenclature extensions and suggestions to describe complex mutations: a discussion

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12 December 2020

Familial adenomatous polyposis (FAP): frequency, penetrance, and mutation rate

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12 December 2020

Familial syndrome of progressive arterial occlusive disease consistent with fibromuscular dysplasia, hypertension, congenital cardiac defects, bone fragility, brachysyndactyly, and learning disabilities.

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12 December 2020

Maternal mosaicism for a second mutational event--a novel deletion--in a familial adenomatous polyposis family harboring a new germ-line mutation in the alternatively spliced-exon 9 region of APC

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12 December 2020

Dominant mutations in familial lethal and severe osteogenesis imperfecta

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12 December 2020

Upper gastrointestinal disease in patients with familial adenomatous polyposis

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12 December 2020

Parental mosaicism can cause recurrent transmission ofSCN1A mutations associated with severe myoclonic epilepsy of infancy

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12 December 2020

Germline mutations of the APC gene in patients with familial adenomatous polyposis-associated thyroid carcinoma: results from a European cooperative study

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12 December 2020

Duodenal adenomatosis in familial adenomatous polyposis coli. A review of the literature and results from the Heidelberg Polyposis Register

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12 December 2020

Perinatal lethal osteogenesis imperfecta (OI type II): a biochemically heterogeneous disorder usually due to new mutations in the genes for type I collagen

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12 December 2020

10.1007/S10689-007-9169-1

Identifiers

DOI

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Dimensions Publication ID

4 August 2017

1008291309

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