Germline Mutations for Kidney Volume in ADPKD

Kidney International Reports ◽

10.1016/j.ekir.2021.12.012 ◽

2021 ◽

Author(s):

Hiroshi Kataoka ◽

Rie Yoshida ◽

Naomi Iwasa ◽

Masayo Sato ◽

Shun Manabe ◽

...

Keyword(s):

Germline Mutations ◽

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Concordant LOH at BRCA gena loci in paired tumour samples: A predictive tool for the identification of germline mutations

European Journal of Cancer ◽

10.1016/s0959-8049(02)80140-x ◽

2002 ◽

Vol 38 (11) ◽

pp. S52-S53

Author(s):

J Cid

Keyword(s):

Germline Mutations ◽

Predictive Tool ◽

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Updated dataset of germline mutations within the SWI/SNF complex predicting age of tumor onset and type of disease

10.1055/s-0037-1602213 ◽

2017 ◽

Author(s):

T Holsten ◽

M Hasselblatt ◽

U Kordes ◽

R Siebert ◽

R Schneppenheim ◽

...

Keyword(s):

Germline Mutations ◽

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Germline Mutations in Non-syndromic Pheochromocytoma

Hormone and Metabolic Research ◽

10.1055/s-2004-830835 ◽

2004 ◽

Vol 36 (06) ◽

Author(s):

HPH Neumann ◽

B Bausch ◽

SR McWhinney ◽

BU Bender ◽

O Gimm ◽

...

Keyword(s):

Germline Mutations

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Precursor lesions of hereditary diffuse gastric cancer (HDGC) in prophylactic gastrectomies performed in carriers of CDH1 germline mutations. The experience of a reference center

10.26226/morressier.578f37fed462b8028d88f7eb ◽

2016 ◽

Author(s):

Xiaogang Wen

Keyword(s):

Gastric Cancer ◽

Germline Mutations ◽

Hereditary Diffuse Gastric Cancer ◽

Diffuse Gastric Cancer ◽

Precursor Lesions ◽

Reference Center

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Faculty Opinions recommendation of Germline mutations in the ribonuclease L gene in families showing linkage with HPC1.

Faculty Opinions – Post-Publication Peer Review of the Biomedical Literature ◽

10.3410/f.1003862.42411 ◽

2002 ◽

Author(s):

Lynne Maquat

Keyword(s):

Germline Mutations ◽

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Faculty Opinions recommendation of Germline mutations in HRAS proto-oncogene cause Costello syndrome.

Faculty Opinions – Post-Publication Peer Review of the Biomedical Literature ◽

10.3410/f.1028069.335966 ◽

2005 ◽

Author(s):

Giovanni Neri

Keyword(s):

Germline Mutations ◽

Costello Syndrome

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Faculty Opinions recommendation of Cancer risks associated with germline mutations in MLH1, MSH2, and MSH6 genes in Lynch syndrome.

Faculty Opinions – Post-Publication Peer Review of the Biomedical Literature ◽

10.3410/f.11463956.12491054 ◽

2011 ◽

Author(s):

Hemant Roy

Keyword(s):

Lynch Syndrome ◽

Germline Mutations ◽

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Faculty Opinions recommendation of Germline mutations and variants in the succinate dehydrogenase genes in Cowden and Cowden-like syndromes.

Faculty Opinions – Post-Publication Peer Review of the Biomedical Literature ◽

10.3410/f.1131843.588930 ◽

2008 ◽

Author(s):

Branca Cavaco ◽

Jaime Miguel Gomes Pita

Keyword(s):

Succinate Dehydrogenase ◽

Germline Mutations

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Faculty Opinions recommendation of Increases in kidney volume in autosomal dominant polycystic kidney disease can be detected within 6 months.

Faculty Opinions – Post-Publication Peer Review of the Biomedical Literature ◽

10.3410/f.1156979.617056 ◽

2009 ◽

Author(s):

Ron Gansevoort ◽

Ester Meijer

Keyword(s):

Kidney Disease ◽

Polycystic Kidney Disease ◽

Autosomal Dominant ◽

Kidney Volume ◽

Polycystic Kidney ◽

Autosomal Dominant Polycystic Kidney

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Faculty Opinions recommendation of Germline mutations in TMEM127 confer susceptibility to pheochromocytoma.

Faculty Opinions – Post-Publication Peer Review of the Biomedical Literature ◽

10.3410/f.2302998.2807063 ◽

2010 ◽

Author(s):

Peter Fuller

Keyword(s):

Germline Mutations

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