Literature DB >> 18463350

Maternal transmission of symptomatic disease with SDHD mutation: fact or fiction?

Hartmut P H Neumann, Zoran Erlic.   

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Year:  2008        PMID： 18463350     DOI： 10.1210/jc.2008-0569

Source DB:  PubMed          Journal:  J Clin Endocrinol Metab        ISSN： 0021-972X            Impact factor:   5.958


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  13 in total

1.  [A young patient with paraganglioma syndrome type I. An interdisciplinary challenge].

Authors:  C Brase; H Neumann; M Lell; S Schwarz-Furlan; K Rogler; J Hornung
Journal:  HNO       Date:  2012-08       Impact factor: 1.284

Review 2.  Pheochromocytoma/Paraganglioma: Is This a Genetic Disorder?

Authors:  Lauren Fishbein
Journal:  Curr Cardiol Rep       Date:  2019-07-31       Impact factor: 2.931

3.  Genomic imprinting at a boundary element flanking the SDHD locus.

Authors:  Bora E Baysal; Sharen E McKay; Yoon Jung Kim; Zimei Zhang; Linda Alila; Joan E Willett-Brozick; Karel Pacak; Tae Hoon Kim; Gerald S Shadel
Journal:  Hum Mol Genet       Date:  2011-08-23       Impact factor: 6.150

4.  Malignant phenotype and two SDHD mutations in a family with paraganglioma syndrome type 1.

Authors:  Franciele B Leidenz; Luciana Bastos-Rodrigues; Marcelo Oliveira; Marcelo Mamede; Marta Sarquis; Eitan Friedman; Luiz de Marco
Journal:  Genet Res (Camb)       Date:  2015-03-30       Impact factor: 1.588

5.  Identification of three new variants of SDHx genes in a cohort of Portuguese patients with extra-adrenal paragangliomas.

Authors:  R Domingues; P Montalvão; M Magalhães; R Santos; L Duarte; M J Bugalho
Journal:  J Endocrinol Invest       Date:  2012-01-30       Impact factor: 4.256

Review 6.  Molecular basis for primary and secondary tyrosine kinase inhibitor resistance in gastrointestinal stromal tumor.

Authors:  Mrinal M Gounder; Robert G Maki
Journal:  Cancer Chemother Pharmacol       Date:  2010-11-30       Impact factor: 3.333

7.  Impact of screening kindreds for SDHD p.Cys11X as a common mutation associated with paraganglioma syndrome type 1.

Authors:  Mariola Peczkowska; Zoran Erlic; Michael M Hoffmann; Mariusz Furmanek; Jaroslaw Cwikla; Agata Kubaszek; Aleksander Prejbisz; Zbigniew Szutkowski; Andrzej Kawecki; Krzysztof Chojnowski; Anna Lewczuk; Mieczyslaw Litwin; Witold Szyfter; Martin A Walter; Maren Sullivan; Charis Eng; Andrzej Januszewicz; Hartmut P H Neumann
Journal:  J Clin Endocrinol Metab       Date:  2008-09-30       Impact factor: 5.958

8.  Paraganglioma syndrome type 1 in a patient with Carney-Stratakis syndrome.

Authors:  Montserrat Ayala-Ramirez; Glenda G Callender; Michael E Kupferman; Thereasa A Rich; Hubert H Chuang; Jonathan Trent; Nancy D Perrier; Mahmoud Goodarzi; Camilo Jimenez
Journal:  Nat Rev Endocrinol       Date:  2010-02       Impact factor: 43.330

9.  The approach to the patient with paraganglioma.

Authors:  Hartmut P H Neumann; Charis Eng
Journal:  J Clin Endocrinol Metab       Date:  2009-08       Impact factor: 5.958

Review 10.  Genetically-defined metabolic reprogramming in cancer.

Authors:  Andrew R Mullen; Ralph J DeBerardinis
Journal:  Trends Endocrinol Metab       Date:  2012-07-31       Impact factor: 12.015
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