TY - JOUR AU - Fortuno, C. AU - Labarta, E. PY - 2014 DA - 2014// TI - Genetics of primary ovarian insufficiency: a review JO - J Assist Reprod Genet VL - 12 UR - https://doi.org/10.1007/s10815-014-0342-9 DO - 10.1007/s10815-014-0342-9 ID - Fortuno2014 ER - TY - JOUR AU - Welt, C. K. PY - 2008 DA - 2008// TI - Primary ovarian insufficiency: a more accurate term for premature ovarian failure JO - Clin Endocrinol VL - 68 UR - https://doi.org/10.1111/j.1365-2265.2007.03073.x DO - 10.1111/j.1365-2265.2007.03073.x ID - Welt2008 ER - TY - JOUR AU - Visser, J. A. AU - Schipper, I. AU - Laven, J. S. AU - Themmen, A. P. PY - 2012 DA - 2012// TI - Anti-Mullerian hormone: an ovarian reserve marker in primary ovarian insufficiency JO - Nat Rev Endocrinol VL - 8 ID - Visser2012 ER - TY - JOUR AU - Persani, L. AU - Rossetti, R. AU - Cacciatore, C. PY - 2010 DA - 2010// TI - Genes involved in human premature ovarian failure JO - J Mol Endocrinol VL - 45 UR - https://doi.org/10.1677/JME-10-0070 DO - 10.1677/JME-10-0070 ID - Persani2010 ER - TY - JOUR AU - Zinn, A. R. PY - 2001 DA - 2001// TI - The X chromosome and the ovary JO - J Soc Gynecol Investig VL - 8 UR - https://doi.org/10.1016/S1071-5576(00)00104-0 DO - 10.1016/S1071-5576(00)00104-0 ID - Zinn2001 ER - TY - JOUR AU - Goswami, D. AU - Conway, G. S. PY - 2005 DA - 2005// TI - Premature ovarian failure JO - Hum Reprod Update VL - 11 UR - https://doi.org/10.1093/humupd/dmi012 DO - 10.1093/humupd/dmi012 ID - Goswami2005 ER - TY - JOUR AU - Moyses-Oliveira, M. AU - Dos Santos, G. R. AU - Gollo Dantas, A. AU - Ueta, R. AU - Perez, A. B. AU - Haidar, M. PY - 2015 DA - 2015// TI - Genetic mechanisms leading toprimary amenorrhea in balanced X-autosome translocations JO - Fertil Steril VL - 103 UR - https://doi.org/10.1016/j.fertnstert.2015.01.030 DO - 10.1016/j.fertnstert.2015.01.030 ID - Moyses-Oliveira2015 ER - TY - JOUR AU - Therman, E. AU - Laxova, R. AU - Susman, B. PY - 1990 DA - 1990// TI - The critical region on the human Xq JO - Hum Genet VL - 85 ID - Therman1990 ER - TY - JOUR AU - Rizzolio, F. AU - Bione, S. AU - Sala, C. AU - Goegan, M. AU - Gentile, M. AU - Gregato, G. PY - 2006 DA - 2006// TI - Chromosomal rearrangements in Xq and premature ovarian failure: mapping of 25 new cases and review of the literature JO - Hum Reprod VL - 21 UR - https://doi.org/10.1093/humrep/dei495 DO - 10.1093/humrep/dei495 ID - Rizzolio2006 ER - TY - JOUR AU - Mumm, S. AU - Herrera, L. AU - Waeltz, P. W. AU - Scardovi, A. AU - Nagaraja, R. AU - Esposito, T. PY - 2001 DA - 2001// TI - X/autosomal translocations in the Xq critical region associated with premature ovarian failure fall within and outside genes JO - Genomics VL - 76 UR - https://doi.org/10.1006/geno.2001.6611 DO - 10.1006/geno.2001.6611 ID - Mumm2001 ER - TY - JOUR AU - Prueitt, R. L. AU - Chen, H. AU - Barnes, R. I. AU - Zinn, A. R. PY - 2002 DA - 2002// TI - Most X; autosome translocations associated with premature ovarian failure do not interrupt X-linked genes JO - Cytogenetic and Genome Research VL - 97 UR - https://doi.org/10.1159/000064052 DO - 10.1159/000064052 ID - Prueitt2002 ER - TY - CHAP AU - Schluth-Bolard, C. AU - Ottaviani, A. AU - Gilson, E. AU - Magdlnier, F. ED - Trygve, T. PY - 2011 DA - 2011// TI - Chromosomal Position Effects and Gene Variegation: Impact in Pathologies BT - Handbook of Epigenetics: The New Molecular and Medical genetics. Chapter 6 PB - Birmingham CY - AL, USA ID - Schluth-Bolard2011 ER - TY - JOUR AU - Genesio, R. AU - Melis, D. AU - Gatto, S. AU - Izzo, A. AU - Ronga, V. AU - Cappuccio, G. PY - 2011 DA - 2011// TI - Variegated silencing through epigenetic modifications of a large Xq region in a case of balanced X;2 translocation with Incontinentia Pigmenti-like phenotype JO - Epigenetics VL - 6 UR - https://doi.org/10.4161/epi.6.10.17698 DO - 10.4161/epi.6.10.17698 ID - Genesio2011 ER - TY - JOUR AU - Bione, S. AU - Rizzolio, F. AU - Sala, C. AU - Ricotti, R. AU - Goegan, M. AU - Manzini, M. C. PY - 2004 DA - 2004// TI - Mutation analysis of two candidate genes for premature ovarian failure, DACH2 and POF1B JO - Hum Reprod VL - 19 UR - https://doi.org/10.1093/humrep/deh502 DO - 10.1093/humrep/deh502 ID - Bione2004 ER - TY - JOUR AU - Rizzolio, F. AU - Sala, C. AU - Alboresi, S. AU - Bione, S. AU - Gilli, S. AU - Goegan, M. PY - 2007 DA - 2007// TI - Epigenetic control of the critical region for premature ovarian failure on autosomal genes translocated to the X chromosome: a hypothesis JO - Hum Genet VL - 121 UR - https://doi.org/10.1007/s00439-007-0329-z DO - 10.1007/s00439-007-0329-z ID - Rizzolio2007 ER - TY - JOUR AU - Gleicher, N. AU - Barad, D. H. PY - 2010 DA - 2010// TI - The FMR1 gene as regulator of ovarian recruitment and ovarian reserve JO - Obset Gynecol Surv VL - 65 UR - https://doi.org/10.1097/OGX.0b013e3181f8bdda DO - 10.1097/OGX.0b013e3181f8bdda ID - Gleicher2010 ER - TY - JOUR AU - Murray, A. PY - 2000 DA - 2000// TI - Premature ovarian failure and the FMR1 gene JO - Semin Reprod Med VL - 18 UR - https://doi.org/10.1055/s-2000-13476 DO - 10.1055/s-2000-13476 ID - Murray2000 ER - TY - JOUR AU - Miano, M. G. AU - Laperuta, C. AU - Chiurazzi, P. AU - D’Urso, M. AU - Ursini, M. V. PY - 2007 DA - 2007// TI - Ovarian dysfunction and FMR1 alleles in a large Italian family with POF and FRAXA disorders: case report JO - BMC Med Genet VL - 8 UR - https://doi.org/10.1186/1471-2350-8-18 DO - 10.1186/1471-2350-8-18 ID - Miano2007 ER - TY - JOUR AU - Jin, M. AU - Yu, Y. AU - Huang, H. PY - 2011 DA - 2011// TI - An update on primary ovarian insufficiency JO - Sci China Life Sci VL - 55 UR - https://doi.org/10.1007/s11427-012-4355-2 DO - 10.1007/s11427-012-4355-2 ID - Jin2011 ER - TY - JOUR AU - Wittenberger, M. D. AU - Hagerman, R. J. AU - Sherman, S. L. AU - McConkie-Rosell, A. AU - Welt, C. K. AU - Rebar, R. W. PY - 2007 DA - 2007// TI - The FMR1 premutation and reproduction JO - Fertil Steril VL - 87 UR - https://doi.org/10.1016/j.fertnstert.2006.09.004 DO - 10.1016/j.fertnstert.2006.09.004 ID - Wittenberger2007 ER - TY - STD TI - Growth Charts from Center for Disease Control and Prevention (2000) http://www.cdc.gov/growthcharts. UR - http://www.cdc.gov/growthcharts ID - ref21 ER - TY - JOUR AU - Hantash, F. M. AU - Goos, D. G. AU - Tsao, D. AU - Quan, F. AU - Buller-Burckle, A. AU - Peng, M. PY - 2010 DA - 2010// TI - Qualitative assessment of FMR1 (CGG)n triplet repeat status in normal, intermediate, premutation, full mutation, and mosaic carriers in both sexes: Implications for fragile X syndrome carrier and newborn screening JO - Genetics in Medicine VL - 12 UR - https://doi.org/10.1097/GIM.0b013e3181d0d40e DO - 10.1097/GIM.0b013e3181d0d40e ID - Hantash2010 ER - TY - JOUR AU - Liehr, T. AU - Weise, A. AU - Heller, A. AU - Starke, H. AU - Mrasek, K. AU - Kuechler, A. PY - 2002 DA - 2002// TI - Multicolor chromosome banding (MCB) with YAC/BAC-based probes and region-specific microdissection DNA libraries JO - Cytogenet Genome Res VL - 97 UR - https://doi.org/10.1159/000064043 DO - 10.1159/000064043 ID - Liehr2002 ER - TY - JOUR AU - Jacobs, P. A. AU - Migeon, B. R. PY - 1989 DA - 1989// TI - Studies of X-chromosome inactivation in trisomies JO - Cytogenet Cell Genet VL - 50 UR - https://doi.org/10.1159/000132727 DO - 10.1159/000132727 ID - Jacobs1989 ER - TY - JOUR AU - Pfarr, W. AU - Webersinke, G. AU - Paar, C. AU - Wechselberger, C. PY - 2005 DA - 2005// TI - Immunodetection of 5′-methylcytosine on Giemsa-stained chromosomes JO - BioTechniques VL - 38 UR - https://doi.org/10.2144/05384BM01 DO - 10.2144/05384BM01 ID - Pfarr2005 ER - TY - JOUR AU - Boyle, S. AU - Gilchrist, S. AU - Bridger, J. M. AU - Mahy, N. AU - Ellis, J. A. AU - Bickmore, W. A. PY - 2001 DA - 2001// TI - The spatial organization of human chromosomes within the nuclei of normal and emerin-mutant cells JO - Hum Mol Genet VL - 10 UR - https://doi.org/10.1093/hmg/10.3.211 DO - 10.1093/hmg/10.3.211 ID - Boyle2001 ER - TY - STD TI - Database of Genomic Variants: http://dgv.tcag.ca/dgv/app/. UR - http://dgv.tcag.ca/dgv/app/ ID - ref27 ER - TY - STD TI - DECIPHER Database: http://decipher.sanger.ac.uk/. UR - http://decipher.sanger.ac.uk/ ID - ref28 ER - TY - STD TI - UCSC Genome Browser: http://genome.ucsc.edu/. UR - http://genome.ucsc.edu/ ID - ref29 ER - TY - STD TI - ISCA Consortium and Public Database https://www.clinicalgenome.org/ UR - https://www.clinicalgenome.org/ ID - ref30 ER - TY - STD TI - Primer 3 software http://bioinfo.ut.ee/primer3-0.4.0/primer3/ UR - http://frodo.wi.mit.edu/primer3 ID - ref31 ER - TY - JOUR AU - Bernardino, J. AU - Lamoliatte, E. AU - Lombard, M. AU - Niveleau, A. AU - Malfoy, B. AU - Dutrillaux, B. PY - 1996 DA - 1996// TI - DNA methylation of the X chromosomes of the human female: an in situ semi-quantitative analysis JO - Chromosoma VL - 104 UR - https://doi.org/10.1007/BF00352117 DO - 10.1007/BF00352117 ID - Bernardino1996 ER - TY - JOUR AU - Bernardino-Sgherri, J. AU - Flagiello, D. AU - Dutrillaux, B. PY - 2002 DA - 2002// TI - Overall DNA methylation and chromatin structure of normal and abnormal X chromosomes JO - Cytogenet Genome Res VL - 99 UR - https://doi.org/10.1159/000071578 DO - 10.1159/000071578 ID - Bernardino-Sgherri2002 ER - TY - JOUR AU - Cremer, T. AU - Cremer, M. AU - Dietzel, S. AU - Müller, S. AU - Solovei, I. AU - Fakan, S. PY - 2006 DA - 2006// TI - Chromosome territories--a functional nuclear landscape JO - Curr Opin Cell Biol VL - 18 UR - https://doi.org/10.1016/j.ceb.2006.04.007 DO - 10.1016/j.ceb.2006.04.007 ID - Cremer2006 ER - TY - JOUR AU - Harewood, L. AU - Schütz, F. AU - Boyle, S. AU - Perry, P. AU - Delorenzi, M. AU - Bickmore, W. A. PY - 2010 DA - 2010// TI - The effect of translocation-induced nuclear reorganization on gene expression JO - Genome Res VL - 20 UR - https://doi.org/10.1101/gr.103622.109 DO - 10.1101/gr.103622.109 ID - Harewood2010 ER - TY - JOUR AU - Hiratani, I. AU - Ryba, T. AU - Itoh, M. AU - Yokochi, T. AU - Schwaiger, M. AU - Chang, C. W. PY - 2008 DA - 2008// TI - Global reorganization of replication domains during embryonic stem cell differentiation JO - PLoS Biol VL - 6 UR - https://doi.org/10.1371/journal.pbio.0060245 DO - 10.1371/journal.pbio.0060245 ID - Hiratani2008 ER - TY - JOUR AU - Schuettler, J. AU - Peng, Z. AU - Zimmer, J. AU - Sinn, P. AU - Von Hagens, C. AU - Strowitzki, T. PY - 2011 DA - 2011// TI - Variable expression of the Fragile X Mental Retardation 1 (FMR1) gene in patients with premature ovarian failure syndrome is not dependent on number of (CGG)n triplets in exon 1 JO - Hum Reprod VL - 26 UR - https://doi.org/10.1093/humrep/der018 DO - 10.1093/humrep/der018 ID - Schuettler2011 ER -