Suchergebnisse - "Forabosco, Antonino"
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Loss of Wnt4 and Foxl2 leads to female-to-male sex reversal extending to germ cells
ISSN: 0964-6906Veröffentlicht: England 01.12.2007Veröffentlicht in Human molecular genetics (01.12.2007)“… The discovery that the SRY gene induces male sex in humans and other mammals led to speculation about a possible equivalent for female sex. However, only …”
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Establishment of ovarian reserve: a quantitative morphometric study of the developing human ovary
ISSN: 1556-5653, 1556-5653Veröffentlicht: United States 01.09.2007Veröffentlicht in Fertility and sterility (01.09.2007)“… To assess directly the dynamics of the formation of the ovarian reserve in the normal human ovary by evaluating the total number of follicles in developing …”
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Constitutively active Foxo3 in oocytes preserves ovarian reserve in mice
ISSN: 2041-1723, 2041-1723Veröffentlicht: London Nature Publishing Group UK 2013Veröffentlicht in Nature communications (2013)“… During female reproductive life, ovarian follicle reserve is reduced by maturation and atresia until menopause ensues. Foxo3 is required to maintain the …”
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Foxl2 is required for commitment to ovary differentiation
ISSN: 0964-6906Veröffentlicht: England 15.07.2005Veröffentlicht in Human molecular genetics (15.07.2005)“… Genetic control of female sex differentiation from a bipotential gonad in mammals is poorly understood. We find that mouse XX gonads lacking the forkhead …”
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Missense mutations in EDA and EDAR genes cause dominant syndromic tooth agenesis
ISSN: 2324-9269, 2324-9269Veröffentlicht: United States John Wiley & Sons, Inc 01.01.2021Veröffentlicht in Molecular genetics & genomic medicine (01.01.2021)“… Background Hypohidrotic ectodermal dysplasia (HED) is the most common form of ectodermal dysplasia and is mainly associated with mutations in the EDA, EDAR, …”
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Duplications upstream and downstream of SHOX identified as novel causes of Leri-Weill dyschondrosteosis or idiopathic short stature
ISSN: 1552-4825, 1552-4833, 1552-4833Veröffentlicht: United States Blackwell Publishing Ltd 01.04.2016Veröffentlicht in American journal of medical genetics. Part A (01.04.2016)“… Leri–Weill dyschondrosteosis is a pseudoautosomal dominantly‐inherited skeletal dysplasia ascribed to haploinsufficiency of the SHOX gene caused by deletions, …”
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Determination and stability of sex
ISSN: 0265-9247, 1521-1878Veröffentlicht: Hoboken Wiley Subscription Services, Inc., A Wiley Company 01.01.2007Veröffentlicht in BioEssays (01.01.2007)“… How is the embryonic bipotential gonad regulated to produce either an ovary or a testis? In males, transient early activation of the Y chromosome Sry gene …”
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Aging of Oocyte, Ovary, and Human Reproduction
ISSN: 0077-8923, 1749-6632Veröffentlicht: Oxford, UK Blackwell Publishing Ltd 01.12.2004Veröffentlicht in Annals of the New York Academy of Sciences (01.12.2004)“… : We review age‐related changes in the ovary and their effect on female fertility, with particular emphasis on follicle formation, follicle dynamics, and …”
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Mutations in GPC3, a glypican gene, cause the Simpson-Golabi-Behmel overgrowth syndrome
ISSN: 1061-4036Veröffentlicht: United States 01.03.1996Veröffentlicht in Nature genetics (01.03.1996)“… Simpson-Golabi-Behmel syndrome (SGBS) is an X-linked condition characterized by pre- and postnatal overgrowth with visceral and skeletal anomalies. To identify …”
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Gonadoblastoma in Turner syndrome and Y-chromosome-derived material
ISSN: 1552-4825, 1552-4833Veröffentlicht: Hoboken Wiley Subscription Services, Inc., A Wiley Company 01.06.2005Veröffentlicht in American journal of medical genetics. Part A (01.06.2005)“… The identification of Y‐chromosome material is important in females with Ullrich–Turner syndrome (UTS) due to the risk of developing gonadoblastoma or other …”
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Determination and Stability of Gonadal Sex
ISSN: 0196-3635, 1939-4640, 1939-4640Veröffentlicht: Oxford, UK Am Soc Andrology 01.01.2010Veröffentlicht in Journal of andrology (01.01.2010)“… The discovery that the SRY gene induces male sex in humans and other mammals led to speculation about a possible equivalent for female sex. But females are …”
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La formazione della riserva ovarica nella donna
ISSN: 1590-170X, 1720-8351Veröffentlicht: Cham Springer International Publishing 01.02.2022Veröffentlicht in L'Endocrinologo (01.02.2022)Volltext
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Transcriptional control of ovarian development in somatic cells
ISSN: 1526-8004Veröffentlicht: United States 01.07.2007Veröffentlicht in Seminars in reproductive medicine (01.07.2007)“… Developmental transitions of the bipotential gonad to the embryonic ovary and thence to the follicle-filled mature ovary are expected to be coordinated by sets …”
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Foxl2functions in sex determination and histogenesis throughout mouse ovary development
ISSN: 1471-213X, 1471-213XVeröffentlicht: London BioMed Central 18.06.2009Veröffentlicht in BMC developmental biology (18.06.2009)“… Background Partial loss of function of the transcription factor FOXL2 leads to premature ovarian failure in women. In animal models, Foxl2 is required for …”
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Dynamics of the ovarian reserve and impact of genetic and epidemiological factors on age of menopause
ISSN: 0006-3363, 1529-7268Veröffentlicht: United States Society for the Study of Reproduction, Inc 01.05.2015Veröffentlicht in Biology of reproduction (01.05.2015)“… The narrow standard age range of menopause, ∼50 yr, belies the complex balance of forces that govern the underlying formation and progressive loss of ovarian …”
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Lhx8 ablation leads to massive autophagy of mouse oocytes associated with DNA damage
ISSN: 0006-3363, 1529-7268, 1529-7268Veröffentlicht: United States Society for the Study of Reproduction 01.04.2018Veröffentlicht in Biology of reproduction (01.04.2018)“… Following proliferation of oogonia inmammals, great numbers of germ cells are discarded, primarily by apoptosis, while the remainder form primordial follicles …”
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Incidence of non-age-dependent chromosomal abnormalities: a population-based study on 88965 amniocenteses
ISSN: 1018-4813, 1476-5438, 1476-5438Veröffentlicht: Cham Springer International Publishing 01.07.2009Veröffentlicht in European journal of human genetics : EJHG (01.07.2009)“… Current knowledge about the incidence of chromosomal abnormalities in the general population comes from studies in newborns carried out in the 70s, before the …”
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Genetics of the ovarian reserve
ISSN: 1664-8021, 1664-8021Veröffentlicht: Switzerland Frontiers Media S.A 15.10.2015Veröffentlicht in Frontiers in genetics (15.10.2015)“… Primordial follicles or non-growing follicles (NGFs) are the functional unit of reproduction, each comprising a single germ cell surrounded by supporting …”
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Foxl2 disruption causes mouse ovarian failure by pervasive blockage of follicle development
ISSN: 0964-6906Veröffentlicht: England 01.06.2004Veröffentlicht in Human molecular genetics (01.06.2004)“… FOXL2 mutations cause gonadal dysgenesis or premature ovarian failure (POF) in women, as well as eyelid/forehead dysmorphology in both sexes (the …”
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Germ cell formation from embryonic stem cells and the use of somatic cell nuclei in oocytes
ISSN: 0077-8923, 1749-6632, 1749-6632Veröffentlicht: Malden, USA Blackwell Publishing Inc 01.03.2011Veröffentlicht in Annals of the New York Academy of Sciences (01.03.2011)“… Embryonic stem cells (ESCs) have remarkable properties of pluripotency and self‐renewal, along with the retention of chromosomal integrity. Germ cells function …”
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