Connections between constitutional mismatch repair deficiency syndrome and neurofibromatosis type 1-Reference-Cited by-同舟云学术

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Connections between constitutional mismatch repair deficiency syndrome and neurofibromatosis type 1

Published:2017-01-10 Issue:4 Volume:91 Page:507-519
ISSN:0009-9163
Container-title:Clinical Genetics
language:en
Short-container-title:Clin Genet

Author:

Wimmer K.¹,Rosenbaum T.²,Messiaen L.³

Affiliation:

1. Division of Human Genetics; Medical University Innsbruck; Innsbruck Austria

2. Department of Pediatrics; Sana Kliniken Duisburg, Wedau Kliniken; Duisburg Germany

3. Medical Genomics Laboratory, Department of Genetics; University of Alabama at Birmingham; Birmingham AL USA

Publisher

Wiley

Subject

Genetics(clinical),Genetics

Link

http://onlinelibrary.wiley.com/wol1/doi/10.1111/cge.12904/fullpdf

Reference110 articles.

1. Epidemiology of neurofibromatosis type 1;Friedman;Am J Med Genet,1999

2. Use of the national institutes of health criteria for diagnosis of neurofibromatosis 1 in children;DeBella;Pediatrics,2000

3. Clinical and mutational spectrum of neurofibromatosis type 1-like syndrome;Messiaen;JAMA,2009

4. The NF1 locus encodes a protein functionally related to mammalian GAP and yeast IRA proteins;Ballester;Cell,1990

5. Structural analysis of the GAP-related domain from neurofibromin and its implications;Scheffzek;EMBO J,1998

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1. Diagnosis and management of neurofibromatosis type 1 in Arabian Gulf Cooperation Council Region: challenges and recommendations;Frontiers in Oncology;2024-08-27

2. Clinical Insights and Potential Benefits of Stem Cell Transplantation for Constitutional Mismatch Repair Deficiency: A Case Report of Two Siblings;Cureus;2024-08-08

3. Report of the sixth meeting of the European Consortium ‘Care for CMMRD’ (C4CMMRD), Paris, France, November 16th 2022;Familial Cancer;2024-07-20

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