GermlineNF1Mutational Spectra and Loss-of-Heterozygosity Analyses in Patients with Pheochromocytoma and Neurofibromatosis Type 1 | Zendy

Birke Bausch | Zendy; Wiktor Borozdin | Zendy; Victor F. Mautner | Zendy; Michael M. Hoffmann | Zendy; Detlef Boehm | Zendy; Mercedes Robledo | Zendy; Alberto Cascón | Zendy; Tomas Harenberg | Zendy; Francesca Schiavi | Zendy; Christian Pawlu | Zendy; Mariola Pęczkowska | Zendy; Claudio Letizia | Zendy; Stefano Calvieri | Zendy; Giorgio Arnaldi | Zendy; Rolf D. Klingenberg-Noftz | Zendy; Nicole Reisch | Zendy; Ambrogio Fassina | Zendy; Laurent Brunaud | Zendy; Martin A. Walter | Zendy; Massimo Mannelli | Zendy; G. A. MacGregor | Zendy; Fausto Palazzo | Zendy; Marta Barontini | Zendy; Martin K. Walz | Zendy; Bernhard Kremens | Zendy; Georg Brabant | Zendy; Roland Pfäffle | Zendy; Ann-Cathrin Koschker | Zendy; Felix Lohoefner | Zendy; Markus G. Mohaupt | Zendy; Oliver Gimm | Zendy; Barbara Jarząb | Zendy; Sarah R. McWhinney | Zendy; Giuseppe Opocher | Zendy; Andrzej Januszewicz | Zendy; Jürgen Kohlhase | Zendy; Charis Eng | Zendy; Hartmut P.H. Neumann | Zendy

Open Access

GermlineNF1Mutational Spectra and Loss-of-Heterozygosity Analyses in Patients with Pheochromocytoma and Neurofibromatosis Type 1

Author(s) -

Birke Bausch,

Wiktor Borozdin,

Victor F. Mautner,

Michael M. Hoffmann,

Detlef Boehm,

Mercedes Robledo,

Alberto Cascón,

Tomas Harenberg,

Francesca Schiavi,

Christian Pawlu,

Mariola Pęczkowska,

Claudio Letizia,

Stefano Calvieri,

Giorgio Arnaldi,

Rolf D. Klingenberg-Noftz,

Nicole Reisch,

Ambrogio Fassina,

Laurent Brunaud,

Martin A. Walter,

Massimo Mannelli,

G. A. MacGregor,

Fausto Palazzo,

Marta Barontini,

Martin K. Walz,

Bernhard Kremens,

Georg Brabant,

Roland Pfäffle,

Ann-Cathrin Koschker,

Felix Lohoefner,

Markus G. Mohaupt,

Oliver Gimm,

Barbara Jarząb,

Sarah R. McWhinney,

Giuseppe Opocher,

Andrzej Januszewicz,

Jürgen Kohlhase,

Charis Eng,

Hartmut P.H. Neumann

Publication year - 2007

Publication title -

the journal of clinical endocrinology and metabolism

Language(s) - English

Resource type - Journals

SCImago Journal Rank - 2.206

H-Index - 353

eISSN - 1945-7197

pISSN - 0021-972X

DOI - 10.1210/jc.2006-2833

Subject(s) - pheochromocytoma , loss of heterozygosity , neurofibromatosis , neurofibromin 1 , germline mutation , germline , allele , biology , genetics , genotype , cancer research , mutation , medicine , endocrinology , gene

Neurofibromatosis type 1 (NF1) is a pheochromocytoma-associated syndrome. Because of the low prevalence of pheochromocytoma in NF1, we ascertained subjects by pheochromocytoma that also had NF1 in the hope of describing the germline NF1 mutational spectra of NF1-related pheochromocytoma.

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