(Q34715676)

4 August 2017

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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4 August 2017

Thérèse M F Tuohy

2

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4 August 2017

Michelle Condie

3

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4 August 2017

Deborah W Neklason

4

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4 August 2017

Randall W Burt

5

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4 August 2017

18 November 2007

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4 August 2017

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4 August 2017

7

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4 August 2017

2

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4 August 2017

173-177

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https://scigraph.springernature.com/pub.10.1007/s10689-007-9169-1

4 August 2017

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cites work

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

1 reference

12 December 2020

Somatic APC mosaicism: an underestimated cause of polyposis coli.

1 reference

12 December 2020

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

1 reference

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

1 reference

12 December 2020

Mosaicism and sporadic familial adenomatous polyposis

1 reference

12 December 2020

Somatic and germline mosaicisms in Severe Myoclonic Epilepsy of Infancy

1 reference

12 December 2020

Screening guidelines and premorbid diagnosis of familial adenomatous polyposis using linkage

1 reference

12 December 2020

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

1 reference

12 December 2020

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

1 reference

12 December 2020

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

1 reference

12 December 2020

Spontaneous mutation in familial adenomatous polyposis

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12 December 2020

Gastric fundic gland polyps

1 reference

12 December 2020

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

1 reference

12 December 2020

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

1 reference

12 December 2020

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

1 reference

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

1 reference

12 December 2020

Dominant mutations in familial lethal and severe osteogenesis imperfecta

1 reference

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

1 reference

12 December 2020

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

1 reference

12 December 2020

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

1 reference

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

1 reference

12 December 2020

10.1007/S10689-007-9169-1

Identifiers

DOI

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Dimensions Publication ID

4 August 2017

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1 reference