Literature DB >> 1301186

An X chromosome inactivation assay based on differential methylation of a CpG island coupled to a VNTR polymorphism at the 5' end of the monoamine oxidase A gene.

R W Hendriks, Z Y Chen, H Hinds, R K Schuurman, I W Craig.   

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Year:  1992        PMID: 1301186     DOI: 10.1093/hmg/1.8.662

Source DB:  PubMed          Journal:  Hum Mol Genet        ISSN: 0964-6906            Impact factor:   6.150


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  4 in total

1.  Severe infantile onset developmental and epileptic encephalopathy caused by mutations in autophagy gene WDR45.

Authors:  Gemma L Carvill; Aijie Liu; Simone Mandelstam; Amy Schneider; Amy Lacroix; Matthew Zemel; Jacinta M McMahon; Luis Bello-Espinosa; Mark Mackay; Geoffrey Wallace; Michaela Waak; Jing Zhang; Xiaoling Yang; Stephen Malone; Yue-Hua Zhang; Heather C Mefford; Ingrid E Scheffer
Journal:  Epilepsia       Date:  2017-11-24       Impact factor: 5.864

Review 2.  Psychopathological aspects of dopaminergic gene polymorphisms in adolescence and young adulthood.

Authors:  Zsofia Nemoda; Anna Szekely; Maria Sasvari-Szekely
Journal:  Neurosci Biobehav Rev       Date:  2011-04-15       Impact factor: 8.989

Review 3.  Investigating the molecular basis of major depressive disorder etiology: a functional convergent genetic approach.

Authors:  Mbemba Jabbi; Jaap Korf; Johan Ormel; Ido P Kema; Johan A den Boer
Journal:  Ann N Y Acad Sci       Date:  2008-12       Impact factor: 5.691

4.  Clinical spectrum of females with HCCS mutation: from no clinical signs to a neonatal lethal form of the microphthalmia with linear skin defects (MLS) syndrome.

Authors:  Vanessa A van Rahden; Isabella Rau; Sigrid Fuchs; Friederike K Kosyna; Hiram Larangeira de Almeida; Helen Fryssira; Bertrand Isidor; Anna Jauch; Madeleine Joubert; Augusta M A Lachmeijer; Christiane Zweier; Ute Moog; Kerstin Kutsche
Journal:  Orphanet J Rare Dis       Date:  2014-04-15       Impact factor: 4.123

  4 in total

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