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Assisted Reproduction and Infertility 71.


Rey RA, Lhommé C, Marcillac I, et al., Anti-Müllerian hormone as a serum marker of granulosa-cell tumors of the ovary: comparative study with serum alpha-inhibin and estradiol, Am J Obstet Gynecol, 1996;174:958–65.


72.


Nilsson E, Rogers N, Skinner MK, Actions of anti- Mullerian hormone on the ovarian transcriptome to inhibit primordial to primary follicle transition, Reproduction, 2007;134:209–21.


73. 74. 75.


Durlinger AL, Gruijters MJ, Kramer P, et al., Anti-Müllerian hormone inhibits intiation of primordial follicle growth in the mouse ovary, Endocrinology, 2002;143:1076–84.


Gruijters MJ, Visser JA, Durlinger AL, et al., Anti-Mullerian hormone and its role in ovarian function, Mol Cell Endocrinol, 2003;211:85–90.


Durlinger AL, Gruijters MJ, Kramer P, et al., Anti-Müllerian hormone attenuates the effects of FSH on follicle development in the mouse ovary, Endocrinology, 2001;142:4891–9.


76.


Queipo G, Nieto K, Grether P, et al., Unusual mixed gonadal dysgenesis associated with Mullerian duct persistence, polygonadia, and a 45,X/46,X,idic(Y)(p) karyotype, Am J Med Genet A, 2005;136A:386–9.


77.


Belville C, Van Vlijmen H, Ehrenfels C, et al., Mutations of the anti-Mu¨llerian hormone gene in patients with persistent Mu¨llerian duct syndrome:biosynthesis, secretion and processing of the abnormal proteins and analysis using a three-dimensional model, Mol Endocrinol, 2004;18:708–21.


78. 79. 80.


Josso N, Belville C, Picard JY, Mutations of AMH and its receptors, Endocrinologist, 2003;13:247–51.


Rosal-Gonçalves M, Almeida C, Barber J, et al., Mutation of the MIF type II receptor in two brothers, J Pediatr Endocrinol Metab, 2010;23:315–17.


Messika-Zeitoun L, Gouédard L, Belville C, et al., Autosomal recessive segregation of a truncating mutation of anti-Müllerian hormone type II receptor in a family affected by the persistent Mullerian duct syndrome contrasts with its dominant negative activity in vitro, J Clin Endocrinol Metab, 2001;86:4390–97.


81.


Faure E, Gouédard L, Imbeaud S, et al., Mutant isoforms of the anti-Mu¨llerian hormone type II receptor are not expressed at the cell membrane, J Biol Chem, 1996;271; 30571–5.


82.


Menabò S, Balsamo A, Nicoletti A, et al., Three novel AMH gene mutations in a patient with persistent mullerian duct syndrome and normal AMH serum dosage, Horm Res, 2008;70:124–8.


83. 84. 85.


Renu D, Rao BG, Ranganath K, et al., Persistent Müllerian duct syndrome, Indian J Radiol Imaging, 2010;20:72–4.


Mohammadi Sichani M, Heidarpour M, Dadkhah A, et al., Persistent Müllerian duct syndrome with an irreducible inguinal hernia, Urol J, 2009;6:298–300.


Chaabane W, Jarboui L, Sahnoun A, et al., Persistent Müllerian duct syndrome with torsion of a transverse testicular ectopia: first reported case, Urology, 2010;76:65–6.


86.


Prakash N, Khurana A, Narula B, Persistent Müllerian duct syndrome, Indian J Pathol Microbiol, 2009;52:546–8.


97. 87. 88.


Clemente A, Macchi V, Berretta M, et al., Female form of Persistent Müllerian duct syndrome:MDCT findings, Clin Imaging, 2008;32:314–17.


Rehman A, Hasan Z, Amanat S, et al., Combined Persistent Müllerian duct syndrome, transverse testicular ectopia and mosaic Klinefelter’s syndrome, J Coll Physicians Surg Pak, 2008;18:375–7.


89. 90. 91. 92. 93. 94.


di Clemente N, Belville C, Anti-Müllerian hormone receptor defect, Best Pract Res Clin Endocrinol Metab, 2006;20:599–610.


Griffin JE, Edwards C, Madden JD, et al.,


Congenitalabsence of the vagina. The Mayer-Rokitansky- Kuster-Hauser syndrome, Ann Intern Med, 1976;85:224–36.


Varner RE, Younger JB, Blackwell RE, Mullerian dysgenesis, J Reprod Med, 1985;30:443–50.


Pavanello Rde C, Eigier A, Otto PA, Relationship between Mayer-Rokitansky-Kuster (MRK) anomaly and hereditary renal adysplasia (HRA), Am J Med Genet, 1988;29:845–9.


Tilker F, Yildirim SV, Barutcu O, et al., Familial müllerian agenesis, Turk J Pediatr, 2000;42:322–24.


Linquette M, Gasnault JP, Dupont-Lecompte J, et al., A case of utero-vaginal aplasia with polycystic kidney and mosaic XX=XXX, Bull Fed Soc Gynecol Obstet Lang Fr, 1968;20:26–8.


95. 96.


Gardo S, Papp Z, Gaal J, XO-XX Mosaicism in the Rokitansky-Kuster-Hauser syndrome, Lancet, 1971;2:1380–81.


Phansey SA, Tsai CC, Williamson HO, Vaginal agenesis in association with gonadal dysgenesis, Obstet Gynecol, 1981;57:56S–7S.


Hofstetter G, Concin N, Marth C, et al., Genetic analyses in a variant of Mayer-Rokitansky-Kuster-Hauser syndrome (MURCS association), Wien Klin Wochenschr, 2008;120:435–9.


98.


Strübbe EH, Cremers CW, Willemsen WN, et al., The Mayer-Rokitansky-Kuster-Hauser (MRKH) syndrome without and with associated features: two separate entities? Clin Dysmorphol, 1994;3:192–9.


99.


Duncan PA, Shapiro LR, Stangel JJ, et al., The MURCS association: Mullerian duct aplasia, renal aplasia, and cervicothoracic somite dysplasia, J Pediatr, 1979;95: 399–402.


100. Klipstein S, Bhagavath B, Topicat C, et al., The N314D polymorphism of the GALT gene is not associatd with congenital absence of the uterus and vagina, Mol Hum Reprod, 2003;9:171–4.


101. Zenteno JC, Carranza-Lira S, Kofman-Alfaro S, Molecular analysis of the anti-Mullerian hormone, the anti- Mullerian hormone receptor, and galactose-1-phosphate uridyl transferase genes in patients with the Mayer- Rokitansky-Kuster-Hauser syndrome, Arch Gynecol Obstet, 2004;269:270–73.


102. Timmreck LS, Gray MR, Handelin B, et al., Analysis of cystic fibrosis transmembrane conductance regulator gene mutations in patients with congenital absence of the uterus and vagina, Am J Med Genet A, 2003;120A:72–6.


103. Bingham C, Ellard S, Cole TR, et al., Solitary functioning kidney and diverse genital tract malformations


associated with hepatocyte nuclear factor-1beta mutations, Kidney Int, 2002;61:1243–51.


104. Burel A, Mouchel T, Odent S, et al., Role of HOXA7 to HOXA13 and PBX1 genes in various forms of MRKH syndrome (congenital absence of uterus and vagina), J Negat Results Biomed, 2006;5:4.


105. Drummond JB, Rezende CF, Peixoto FC, et al., Molecular analysis of the beta-catenin gene in patients with the Mayer-Rokitansky- Kuster-Hauser syndrome, J Assist Reprod Genet, 2008;25:511–14.


106. Biason-Lauber A, Konrad D, Navratil F et al., A WNT4 mutation associated with Mullerian-duct regression and virilization in a 46,XX woman, N Engl J Med, 2004;351:792–8.


107. Vainio S, Heikkila M, Kispert A, et al., Female development in mammal is regulated by Wnt-4 signalling, Nature, 1999;397:405–9.


108. Biason-Lauber A, De Filippo G, Konrad D, et al., WNT4 deficiency—a clinical phenotype distinct from the classic Mayer-Rokitansky-Kuster-Hauser syndrome:a case report, Hum Reprod, 2007;22:224–9.


109. Sultan C, Biason-Lauber A, Philibert P, Mayer-Rokitansky-Kuster-Hauser syndrome: recent clinical and genetic findings, Gynecol Endocrinol, 2009;25:8–11.


110. Clement-Ziza M, Khen N, Gonzales J, et al., Exclusion of WNT4 as a major gene in Rokitansky-Kuster-Hauser anomaly, Am J Med Genet A, 2005;137:98–9.


111. Drummond JB, Reis FM, Boson WL, et al., Molecular analysis of the WNT4 gene in 6 patients with Mayer- Rokitansky-Kuster-Hauser syndrome, Fertil Steril, 2008;90:857–9.


112. Philibert P, Biason-Lauber A, Rouzier R, et al., Identification and functional analysis of a new WNT4 gene mutation among 28 adolescent girls with primary amenorrhea and müllerian duct abnormalities: a French collaborative study, J Clin Endocrinol Metab, 2008;93:895–900.


113. Ravel C, Lorenço D, Dessolle L, et al., Mutational analysis of the WNT gene family in women with Mayer- Rokitansky-Kuster-Hauser syndrome, Fertil Steril, 2009;91:1604–7.


114. Cheroki C, Krepischi-Santos AC, Rosenberg C, et al., Report of a del22q11 in a patient with Mayer- Rokitansky-Kuster-Hauser (MRKH) anomaly and exclusion of WNT-4, RAR-gamma, and RXRalpha as major genes determining MRKH anomaly in a study of 25 affected women, Am J Med Genet A, 2006;140: 1339–42.


115. Bendavid C, Pasquier L, Watrin T, et al., Phenotypic variability of a 4q34—>qter inherited deletion: MRKH syndrome in the daughter, cardiac defect and Fallopian tube cancer in the mother, Eur J Med Genet, 2007;50:66–72.


116. Bernardini L, Gimelli S, Gervasini C, et al., Recurrent microdeletion at 17q12 as a cause of Mayer- Rokitansky-Kuster-Hauser (MRKH) syndrome:two case reports, Orphanet J Rare Dis, 2009;4:25.


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EUROPEAN OBSTETRICS & GYNAECOLOGY


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