Mutational study of the MAMLD1-gene in hypospadias-Reference-Cited by-同舟云学术

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Mutational study of the MAMLD1-gene in hypospadias

Published:2010-05 Issue:3 Volume:53 Page:122-126
ISSN:1769-7212
Container-title:European Journal of Medical Genetics
language:en
Short-container-title:European Journal of Medical Genetics

Author:

Chen Yougen,Thai Hanh T.T.,Lundin Johanna,Lagerstedt-Robinson Kristina,Zhao Shengtian,Markljung Ellen,Nordenskjöld Agneta

Publisher

Elsevier BV

Subject

Genetics(clinical),Genetics,General Medicine

Reference24 articles.

1. The novel contiguous gene syndrome of myotubular myopathy (MTM1), male hypogenitalism and deletion in Xq28:report of the first familial case;Bartsch;Cytogenet. Cell Genet.,1999

2. Activating transcription factor 3: a hormone responsive gene in the etiology of hypospadias;Beleza-Meireles;Eur. J. Endocrinol.,2008

3. Listening to silence and understanding nonsense: exonic mutations that affect splicing;Cartegni;Nat. Rev. Genet.,2002

4. Human splicing finder: an online bioinformatics tool to predict splicing signals;Desmet;Nucleic Acids Res.,2009

5. Predictive identification of exonic splicing enhancers in human genes;Fairbrother;Science,2002

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2. Digenic Origin of Difference of Sex Development in a Patient Harbouring DHX37 and MAMLD1 Variants;Case Reports in Pediatrics;2024-01

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