نتایج جستجو برای: premature ovarian failure pof

تعداد نتایج: 505415  

Journal: :Human reproduction 1998
W Vegetti M Grazia Tibiletti G Testa de Lauretis Yankowski F Alagna E Castoldi M Taborelli T Motta P F Bolis L Dalprà P G Crosignani

Premature ovarian failure is defined as cessation of ovarian function under the age of 40 years and affects approximately 1% of women in the general population. The aetiology of this disorder is still unknown in most cases. Although there have been some reports of familial premature ovarian failure, very little is known about the incidence and inheritance pattern of its idiopathic form. The aim...

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2014
Xiangyu Ma Yanchun Chen Xianghai Zhao Jinfeng Chen Chong Shen Song Yang

Age at natural menopause (ANM), a highly heritable phenotype, has been identified to be closely associated with major hormone-related diseases, including breast cancer and gynecological cancers. We previously identified an important role for the transforming growth factor, β receptor II (TGFBR2) gene polymorphisms in breast cancer susceptibility among Asian women. Considering the important role...

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Journal: :American journal of human genetics 2003
Elfride De Baere Diane Beysen Christine Oley Birgit Lorenz Julie Cocquet Paul De Sutter Koen Devriendt Michael Dixon Marc Fellous Jean-Pierre Fryns Arturo Garza Christoffer Jonsrud Pasi A Koivisto Amanda Krause Bart P Leroy Françoise Meire Astrid Plomp Lionel Van Maldergem Anne De Paepe Reiner Veitia Ludwine Messiaen

Blepharophimosis syndrome (BPES), an autosomal dominant syndrome in which an eyelid malformation is associated (type I) or not (type II) with premature ovarian failure (POF), has recently been ascribed to mutations in FOXL2, a putative forkhead transcription factor gene. We previously reported 22 FOXL2 mutations and suggested a preliminary genotype-phenotype correlation. Here, we describe 21 ne...

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2016
Mei-Jing Kou Xiu-Fang Ding Jia-Xu Chen Yan Liu Yue-Yun Liu

BACKGROUND This meta-analysis aimed to provide critically estimated evidence for the advantages and disadvantages of Chinese herbal medicines used for premature ovarian failure (POF), which could provide suggestions for rational treatments. MATERIALS AND METHODS The databases searched included MEDLINE, EMBASE, CNKI, VIP, China Dissertation Database, China Important Conference Papers Database,...

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Journal: :American journal of human genetics 2006
Arnaud Lacombe Hane Lee Laila Zahed Mahmoud Choucair Jean-Marc Muller Stanley F Nelson Wael Salameh Eric Vilain

Premature ovarian failure (POF) is characterized by elevated gonadotropins and amenorrhea in women aged <40 years. In a Lebanese family with five sisters who received the diagnosis of POF, we established linkage to the long arm of the X chromosome (between Xq21.1 and Xq21.3.3), using whole-genome SNP typing and homozygosity-by-descent mapping. By sequencing one candidate gene within that region...

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Journal: :Molecular human reproduction 2009
Deepak Adhikari Gilian Flohr Nagaraju Gorre Yan Shen Hairu Yang Eva Lundin Zijian Lan Michael J Gambello Kui Liu

To maintain the length of reproductive life in a woman, it is essential that most of her ovarian primordial follicles are maintained in a quiescent state to provide a continuous supply of oocytes. However, our understanding of the molecular mechanisms that control the quiescence and activation of primordial follicles is still in its infancy. In this study, we provide some genetic evidence to sh...

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Journal: :Folia histochemica et cytobiologica 2009
Elfride De Baere Marc Fellous Reiner A Veitia

The Blepharophimosis Ptosis Epicanthus-inversus Syndrome is a genetic disease characterized by complex eyelid malformations often associated with premature ovarian failure (POF). BPES is basically an autosomal dominant disease, due to mutations in the FOXL2 gene, which encodes a forkhead transcription factor. More than one hundred mutations of FOXL2 have been described to date. In agreement wit...

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Journal: :medical hypothesis, discovery and innovation ophthalmology journal 0
bajic vladan spremo-potparevic biljana vesna mandusic milicevic zorana lada zivkovic

800x600 years ago, it was thought that a genetic component was the fundamental cause of a number retinopathy diseases including age related macular degeneration (amd). since then, information has emerged about novel genes that contribute to various forms of amd and other retinopathies that have been eluding researchers for years. in the genetic sense, only the apoe 2 and 4 genes have been found...

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Journal: :Human reproduction 2007
H M Fatemi C Bourgain P Donoso C Blockeel E G Papanikolaou B Popovic-Todorovic P Devroey

BACKGROUND We aimed to explore the endometrial histology and endocrine profiles on day 21 of an artificial cycle in patients with premature ovarian failure (POF) treated with oral dydrogesterone (DG) or vaginal micronized progesterone. METHODS The study was designed as a prospective pilot study at an academic reproductive medicine unit. Six POF patients were included in the study. After estro...

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Journal: :Journal of medical genetics 2009
P Laissue B Lakhal B A Benayoun A Dipietromaria R Braham H Elghezal P Philibert A Saâd C Sultan M Fellous R A Veitia

BACKGROUND FOXL2 encodes a forkhead transcription factor whose mutations are responsible for the blepharophimosis-ptosis-epicanthus inversus syndrome (BPES), involving craniofacial/palpebral abnormalities often associated with premature ovarian failure (POF). RESULTS We describe a FOXL2 variant (p.Gly187Asp) in a case of POF without BPES. The subcellular localisation of FOXL2-G187D was normal...

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