Acien P, Acien M, Sanchez-Ferrer M (2004) Complex malformations of the female genital tract. New types and revision of classification. Hum Reprod 19(10):2377–2384. https://doi.org/10.1093/humrep/deh423deh423. (In Eng)
Akbari A, Padidar K, Salehi N et al (2021) Rare missense variant in MSH4 associated with primary gonadal failure in both 46, XX and 46 XY individuals. Hum Reprod 36(4):1134–1145. https://doi.org/10.1093/humrep/deaa362
Article CAS PubMed Google Scholar
Bean EJ, Mazur T, Robinson AD (2009) Mayer-Rokitansky-Kuster-Hauser syndrome: sexuality, psychological effects, and quality of life. J Pediatr Adolesc Gynecol 22(6):339–346. https://doi.org/10.1016/j.jpag.2008.11.006
Article CAS PubMed Google Scholar
Biason-Lauber A, De Filippo G, Konrad D, Scarano G, Nazzaro A, Schoenle EJ (2007) WNT4 deficiency–a clinical phenotype distinct from the classic Mayer-Rokitansky-Kuster-Hauser syndrome: a case report. Hum Reprod 22(1):224–229. https://doi.org/10.1093/humrep/del360. (In Eng)
Article CAS PubMed Google Scholar
Biason-Lauber A, Konrad D, Meyer M, DeBeaufort C, Schoenle EJ (2009) Ovaries and female phenotype in a girl with 46, XY karyotype and mutations in the CBX2 gene. Am J Hum Genet 84(5):658–663. https://doi.org/10.1016/j.ajhg.2009.03.016. (In Eng)
Article CAS PubMed PubMed Central Google Scholar
Biason-Lauber A, Konrad D, Navratil F, Schoenle EJ (2004) A WNT4 mutation associated with Mullerian-duct regression and virilization in a 46, XX woman. N Engl J Med. 351(8):792–8. (In eng) (http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&dopt=Citation&list_uids=15317892). Accessed 13 Aug 2010
Boulard S, Diene G, Barat R, et al. (2006) A case of trisomy 12 mosaicism with pituitary malformation and polycystic ovary syndrome. Genet Couns. 17(2):173–83. (https://www.ncbi.nlm.nih.gov/pubmed/16970035). Accessed 5 Sept 2022
Ceroni F, Simpson NH, Francks C et al (2014) Homozygous microdeletion of exon 5 in ZNF277 in a girl with specific language impairment. Eur J Hum Genet 22(10):1165–1171. https://doi.org/10.1038/ejhg.2014.4
Article CAS PubMed PubMed Central Google Scholar
Chen MJ, Wei SY, Yang WS et al (2015) Concurrent exome-targeted next-generation sequencing and single nucleotide polymorphism array to identify the causative genetic aberrations of isolated Mayer-Rokitansky-Kuster-Hauser syndrome. Hum Reprod 30(7):1732–1742. https://doi.org/10.1093/humrep/dev095
Article CAS PubMed Google Scholar
Cheroki C, Krepischi-Santos AC, Szuhai K et al (2008) Genomic imbalances associated with mullerian aplasia. J Med Genet 45(4):228–232. https://doi.org/10.1136/jmg.2007.051839. (In Eng)
Article CAS PubMed Google Scholar
Cui C, Shu W, Li P (2016) Fluorescence in situ hybridization: cell-based genetic diagnostic and research applications. Front Cell Dev Biol 4:89. https://doi.org/10.3389/fcell.2016.00089
Article PubMed PubMed Central Google Scholar
Dode C, Levilliers J, Dupont JM, et al. (2003) Loss-of-function mutations in FGFR1 cause autosomal dominant Kallmann syndrome. Nat Genet. 33(4):463–5. (http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&dopt=Citation&list_uids=12627230). Accessed 13 Aug 2010
Ebert P, Audano PA, Zhu Q et al (2021) Haplotype-resolved diverse human genomes and integrated analysis of structural variation. Science. https://doi.org/10.1126/science.abf7117
Article PubMed PubMed Central Google Scholar
Hainz D, Kruger M, Reber D et al (2021) Mosaic trisomy 12 diagnosed in a female patient: clinical features, genetic analysis, and review of the literature. World J Pediatr 17(4):438–448. https://doi.org/10.1007/s12519-021-00438-9
Article PubMed PubMed Central Google Scholar
Herlin M, Hojland AT, Petersen MB (2014) Familial occurrence of Mayer-Rokitansky-Kuster-Hauser syndrome: a case report and review of the literature. Am J Med Genet A 164A(9):2276–2286. https://doi.org/10.1002/ajmg.a.36652
Article CAS PubMed Google Scholar
Huang CC, Orvis GD, Kwan KM, Behringer RR (2014) Lhx1 is required in Mullerian duct epithelium for uterine development. Dev Biol 389(2):124–136. https://doi.org/10.1016/j.ydbio.2014.01.025
Article CAS PubMed PubMed Central Google Scholar
Jafri M, Wake NC, Ascher DB et al (2015) Germline Mutations in the CDKN2B tumor suppressor gene predispose to renal cell carcinoma. Cancer Discov 5(7):723–729. https://doi.org/10.1158/2159-8290.CD-14-1096
Article CAS PubMed Google Scholar
Jeffet J, Margalit S, Michaeli Y, Ebenstein Y (2021) Single-molecule optical genome mapping in nanochannels: multidisciplinarity at the nanoscale. Essays Biochem 65(1):51–66. https://doi.org/10.1042/EBC20200021
Article CAS PubMed PubMed Central Google Scholar
Kim HG, Herrick SR, Lemyre E, et al. (2005) Hypogonadotropic hypogonadism and cleft lip and palate caused by a balanced translocation producing haploinsufficiency for FGFR1. J Med Genet 42(8):666–72. (http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&dopt=Citation&list_uids=16061567). Accessed 13 Aug 2010
Layman LC (2014) The genetics of mullerian aplasia. Expert Rev Endocrinol Metab 9:411–419
Article CAS PubMed Google Scholar
Layman LC, Porto AL, Xie J, et al. (2002) FSH beta gene mutations in a female with partial breast development and a male sibling with normal puberty and azoospermia. J Clin Endocrinol Metab. 87(8):3702–7. (http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&dopt=Citation&list_uids=12161499). Accessed 13 Aug 2010
Ledig S, Schippert C, Strick R, Beckmann MW, Oppelt PG, Wieacker P (2011) Recurrent aberrations identified by array-CGH in patients with Mayer-Rokitansky-Kuster-Hauser syndrome. Fertil Steril 95(5):1589–1594. https://doi.org/10.1016/j.fertnstert.2010.07.1062
Article CAS PubMed Google Scholar
Ledig S, Tewes AC, Hucke J et al (2018) Array-comparative genomic hybridization analysis in patients with Mullerian fusion anomalies. Clin Genet 93(3):640–646. https://doi.org/10.1111/cge.13160
Article CAS PubMed Google Scholar
Levy-Sakin M, Ebenstein Y (2013) Beyond sequencing: optical mapping of DNA in the age of nanotechnology and nanoscopy. Curr Opin Biotechnol 24(4):690–698. https://doi.org/10.1016/j.copbio.2013.01.009
Article CAS PubMed Google Scholar
Lindner TH, Njolstad PR, Horikawa Y, Bostad L, Bell GI, Sovik O (1999) A novel syndrome of diabetes mellitus, renal dysfunction and genital malformation associated with a partial deletion of the pseudo-POU domain of hepatocyte nuclear factor-1beta. Hum Mol Genet 8(11):2001–2008 ((In eng))
Article CAS PubMed Google Scholar
Louden ED, Poch A, Kim HG, Ben-Mahmoud A, Kim SH, Layman LC (2021) Genetics of hypogonadotropic Hypogonadism-Human and mouse genes, inheritance, oligogenicity, and genetic counseling. Mol Cell Endocrinol 534:111334. https://doi.org/10.1016/j.mce.2021.111334
Article CAS PubMed Google Scholar
Ma J, Qin Y, Liu W, Duan H, Xia M, Chen ZJ (2011) Analysis of PBX1 mutations in 192 Chinese women with Mullerian duct abnormalities. Fertil Steril 95(8):2615–2617. https://doi.org/10.1016/j.fertnstert.2011.04.074
Article CAS PubMed Google Scholar
Meena A, Daga MK, Dixit R (2016) Unusual association of Turner syndrome and Mayer-Rokitansky-Kuster-Hauser syndrome. BMJ Case Rep. https://doi.org/10.1136/bcr-2015-212634
Article PubMed PubMed Central Google Scholar
Mikhael S, Dugar S, Morton M et al (2021) Genetics of agenesis/hypoplasia of the uterus and vagina: narrowing down the number of candidate genes for Mayer-Rokitansky-Kuster-Hauser Syndrome. Hum Genet 140(4):667–680. https://doi.org/10.1007/s00439-020-02239-y
Article CAS PubMed PubMed Central Google Scholar
Muller V, Westerlund F (2017) Optical DNA mapping in nanofluidic devices: principles and applications. Lab Chip 17(4):579–590. https://doi.org/10.1039/c6lc01439a
Article CAS PubMed Google Scholar
Nik-Zainal S, Strick R, Storer M et al (2011) High incidence of recurrent copy number variants in patients with isolated and syndromic Mullerian aplasia. J Med Genet 48(3):197–204. https://doi.org/10.1136/jmg.2010.082412. (In Eng)
Nurk S, Koren S, Rhie A et al (2022) The complete sequence of a human genome. Science 376(6588):44–53. https://doi.org/10.1126/science.abj6987
Article CAS PubMed PubMed Central Google Scholar
Oppelt PG, Lermann J, Strick R et al (2012) Malformations in a cohort of 284 women with Mayer-Rokitansky-Kuster-Hauser syndrome (MRKH). Reprod Biol Endocrinol 10:57. https://doi.org/10.1186/1477-7827-10-57
Article PubMed PubMed Central Google Scholar
Sahajpal NS, Barseghyan H, Kolhe R, Hastie A, Chaubey A (2021) Optical genome mapping as a next-generation cytogenomic tool for detection of structural and copy number variations for prenatal genomic analyses. Genes. https://doi.org/10.3390/genes12030398
Article PubMed PubMed Central Google Scholar
Sahajpal NS, Mondal AK, Ananth S et al (2022a) Optical genome mapping and single nucleotide polymorphism microarray: an integrated approach for investigating products of conception. Genes. https://doi.org/10.3390/genes13040643
Article PubMed PubMed Central Google Scholar
Sahajpal NS, Mondal AK, Tvrdik T et al (2022b) Clinical validation and diagnostic utility of optical genome mapping for enhanced cytogenomic analysis of hematological neoplasms. J Mol Diagn. https://doi.org/10.1016/j.jmoldx.2022.09.009
Sahajpal NS, Jill Lai CY, Hastie A et al (2022c) Optical genome mapping identifies rare structural variations as predisposition factors associated with severe COVID-19. iScience 25(2):103760. https://doi.org/10.1016/j.isci.2022.103760
Article CAS PubMed PubMed Central Google Scholar
Uddin M, Thiruvahindrapuram B, Walker S et al (2015) A high-resolution copy-number variation resource for clinical and population genetics. Genet Med 17(9):747–752. https://doi.org/10.1038/gim.2014.178
留言 (0)