Li-Fraumeni-like syndrome associated with a large BRCA1 intragenic deletion

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Location: Deutsche Nationalbibliothek Frankfurt am Main

ISSN: 1471-2407

Extent: Online-Ressource

Language: Englisch

Notes: online resource.

Bibliographic citation: Li-Fraumeni-like syndrome associated with a large BRCA1 intragenic deletion ; volume:12 ; number:1 ; day:12 ; month:6 ; year:2012 ; pages:1-7 ; date:12.2012
BMC cancer ; 12, Heft 1 (12.6.2012), 1-7, 12.2012

Creator: Silva, Amanda Gonçalves

Contributor: Ewald, Ingrid Petroni
Sapienza, Marina
Pinheiro, Manuela
Peixoto, Ana
de Nóbrega, Amanda França
Carraro, Dirce M.
Teixeira, Manuel R.
Ashton-Prolla, Patricia
Achatz, Maria Isabel W.
Rosenberg, Carla
Krepischi, Ana C V.
SpringerLink (Online service)

DOI: 10.1186/1471-2407-12-237

URN: urn:nbn:de:1111-201603045747

Rights: Der Zugriff auf das Objekt ist unbeschränkt möglich.

Last update: 15.08.2025, 7:20 AM CEST

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Silva, Amanda Gonçalves
Ewald, Ingrid Petroni
Sapienza, Marina
Pinheiro, Manuela
Peixoto, Ana
de Nóbrega, Amanda França
Carraro, Dirce M.
Teixeira, Manuel R.
Ashton-Prolla, Patricia
Achatz, Maria Isabel W.
Rosenberg, Carla
Krepischi, Ana C V.
SpringerLink (Online service)

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Li-Fraumeni-like syndrome associated with a large BRCA1 intragenic deletion

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Other Objects (12)

Deletion 22q13.3 syndrome

AIMP3 Deletion Induces Acute Radiation Syndrome-like Phenotype in Mice

Alpha-6 integrin deletion delays the formation of Brca1/p53-deficient basal-like breast tumors by restricting luminal progenitor cell expansion

Complement Activation in 22q11.2 Deletion Syndrome

Jacobsen syndrome: Chromosome deletion at llq23

Familial deletion 18p syndrome: case report

Shyness discriminates between children with 22q11.2 deletion syndrome and Williams syndrome and predicts emergence of psychosis in 22q11.2 deletion syndrome

Pathogenic germline aberrations in TP53 and BRCA1/2-negative breast cancer patients suggestive of Li-Fraumeni syndrome

Genotype-phenotype correlation in 22q11.2 deletion syndrome

11q23 deletion syndrome (Jacobsen syndrome) with severe bleeding: a case report

Mesomelia-synostoses syndrome: contiguous deletion syndrome, SULF1 haploinsufficiency or enhancer adoption?

Mapping the deletion endpoints in individuals with 22q11.2 Deletion Syndrome by droplet digital PCR

Deletion 22q13.3 syndrome

AIMP3 Deletion Induces Acute Radiation Syndrome-like Phenotype in Mice

Alpha-6 integrin deletion delays the formation of Brca1/p53-deficient basal-like breast tumors by restricting luminal progenitor cell expansion

Complement Activation in 22q11.2 Deletion Syndrome

Jacobsen syndrome: Chromosome deletion at llq23

Familial deletion 18p syndrome: case report

Shyness discriminates between children with 22q11.2 deletion syndrome and Williams syndrome and predicts emergence of psychosis in 22q11.2 deletion syndrome

Pathogenic germline aberrations in TP53 and BRCA1/2-negative breast cancer patients suggestive of Li-Fraumeni syndrome

Genotype-phenotype correlation in 22q11.2 deletion syndrome

11q23 deletion syndrome (Jacobsen syndrome) with severe bleeding: a case report

Mesomelia-synostoses syndrome: contiguous deletion syndrome, SULF1 haploinsufficiency or enhancer adoption?

Mapping the deletion endpoints in individuals with 22q11.2 Deletion Syndrome by droplet digital PCR

Deletion 22q13.3 syndrome

AIMP3 Deletion Induces Acute Radiation Syndrome-like Phenotype in Mice

Alpha-6 integrin deletion delays the formation of Brca1/p53-deficient basal-like breast tumors by restricting luminal progenitor cell expansion

Complement Activation in 22q11.2 Deletion Syndrome

Jacobsen syndrome: Chromosome deletion at llq23

Familial deletion 18p syndrome: case report

Shyness discriminates between children with 22q11.2 deletion syndrome and Williams syndrome and predicts emergence of psychosis in 22q11.2 deletion syndrome

Pathogenic germline aberrations in TP53 and BRCA1/2-negative breast cancer patients suggestive of Li-Fraumeni syndrome

Genotype-phenotype correlation in 22q11.2 deletion syndrome

11q23 deletion syndrome (Jacobsen syndrome) with severe bleeding: a case report

Mesomelia-synostoses syndrome: contiguous deletion syndrome, SULF1 haploinsufficiency or enhancer adoption?

Mapping the deletion endpoints in individuals with 22q11.2 Deletion Syndrome by droplet digital PCR

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