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- [1] Laissue P(2015)Aetiological coding sequence variants in non-syndromic premature ovarian failure: from genetic linkage analysis to next generation sequencing Mol Cell Endocrinol 411 243-257
- [2] Pouresmaeili F(2014)Premature ovarian failure: a critical condition in the reproductive potential with various genetic causes Int J Fertil Steril 8 1-12
- [3] Fazeli Z(2007)Recurrent reciprocal genomic rearrangements of 17q12 are associated with renal disease, diabetes, and epilepsy Am J Hum Genet 81 1057-1069
- [4] Mefford HC(2007)Copy-number variations measured by single-nucleotide-polymorphism oligonucleotide arrays in patients with mental retardation Am J Hum Genet 81 768-779
- [5] Clauin S(2010)Recurrent microdeletions of 15q25.2 are associated with increased risk of congenital diaphragmatic hernia, cognitive deficits and possibly diamond--Blackfan anaemia J Med Genet 47 777-781
- [6] Sharp AJ(2011)A copy number variation morbidity map of developmental delay Nat Genet 43 838-846
- [7] Moller RS(2013)Proximal and distal 15q25.2 microdeletions-genotype-phenotype delineation of two neurodevelopmental susceptibility loci Am J Med Genet A 161A 218-224
- [8] Ullmann R(2014)Characterization of core clinical phenotypes associated with recurrent proximal 15q25.2 microdeletions Am J Med Genet A 164A 77-86
- [9] Kapur R(2016)Deletion of CPEB1 gene: a rare but recurrent cause of premature ovarian insufficiency J Clin Endocrinol Metab 101 2099-2104
- [10] Pinkel D(2011)Genomic analysis using high-resolution single-nucleotide polymorphism arrays reveals novel microdeletions associated with premature ovarian failure Fertil Steril 95 1595-1600