Search Results - "Vogt, PH"
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AZF deletions and Y chromosomal haplogroups: history and update based on sequence
Published in Human reproduction update (01-07-2005)“…AZF deletions are genomic deletions in the euchromatic part of the long arm of the human Y chromosome (Yq11) associated with azoospermia or severe…”
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Azoospermia factor (AZF) in Yq11: towards a molecular understanding of its function for human male fertility and spermatogenesis
Published in Reproductive biomedicine online (2005)“…The Y chromosomal azoospermia factor (AZF) is essential for human spermatogenesis. It has been mapped by molecular deletion analyses to three subintervals in…”
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3
Developmental expression of POU5F1 (OCT‐3/4) in normal and dysgenetic human gonads
Published in Human reproduction (Oxford) (01-06-2004)“…BACKGROUND: To investigate how long fetal germ cells retain pluripotency, which may be linked to their ability to transform into histologically variable…”
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A Large AZFc Deletion Removes DAZ3/DAZ4 and Nearby Genes from Men in Y Haplogroup N
Published in American journal of human genetics (01-01-2004)“…Deletion of the entire AZFc locus on the human Y chromosome leads to male infertility. The functional roles of the individual gene families mapped to AZFc are,…”
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The AZFa gene DBY (DDX3Y) is widely transcribed but the protein is limited to the male germ cells by translation control
Published in Human molecular genetics (01-10-2004)“…We explored the function of the human DEAD-box Y RNA helicase DBY (DDX3Y) gene located in the (AZFa) region on the human Y chomosome (Yq11.21). Deletion of…”
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Two long homologous retroviral sequence blocks in proximal Yq11 cause AZFa microdeletions as a result of intrachromosomal recombination events
Published in Human molecular genetics (12-10-2000)“…We mapped the breakpoints of the AZoospermia factor a (AZFa) microdeletion located in proximal Yq11 in six men with complete germ cell aplasia, i.e. Sertoli…”
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Multiplex PCR: critical parameters and step-by-step protocol
Published in BioTechniques (01-09-1997)“…By simultaneously amplifying more than one locus in the same reaction, multiplex PCR is becoming a rapid and convenient screening assay in both the clinical…”
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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) sub(n) triplets in exon 1
Published in Human reproduction (Oxford) (01-05-2011)“…BACKGROUND Increased expression of the Fragile X Mental Retardation 1 (FMR1) gene in blood cells has been claimed to be associated with variable (CGG) sub(n)…”
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Human Y Chromosome Azoospermia Factors (AZF) Mapped to Different Subregions in Yq11
Published in Human molecular genetics (01-07-1996)“…In a large collaborative screening project, 370 men with idiopathic azoospermia or severe oligozoospermia were analysed for deletions of 76 DNA loci in Yq11…”
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RAN-Translation in fragile X associated Premature Ovarian Insufficiency (FXPOI) FMRpolyG as predictive tool?
Published in Geburtshilfe und Frauenheilkunde (01-10-2020)Get full text
Conference Proceeding -
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Human chromosome deletions in Yq11, AZf candidate genes and male infertility : history and update
Published in Molecular human reproduction (01-08-1998)“…Human chromosome deletions in Yq11 seem to occur frequently as de novo mutation events in men with idiopathic azoospermia or severe oligozoospermia. However,…”
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Genomic heterogeneity and instability of the AZF locus on the human Y chromosome
Published in Molecular and cellular endocrinology (30-09-2004)“…The spermatogenesis locus azoospermia factor (AZF) in Yq11 has been mapped to three microdeletion intervals designated as AZFa, AZFb, and AZFc. They are caused…”
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Premature ovarian insufficiency/failure syndrome“ (POI/POF)
Published in Gynäkologische Endokrinologie (01-09-2014)Get full text
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High frequency of DAZ1/DAZ2 gene deletions in patients with severe oligozoospermia
Published in Molecular human reproduction (01-03-2002)“…Deletions of the DAZ gene family in distal Yq11 are always associated with deletions of the azoospermia factor c (AZFc) region, which we now estimate extends…”
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FMR1 und mTOR/AKT Signalweg in humanen Granulosazellen: Funktion und Interaktion in der Follikulogenese
Published in Geburtshilfe und Frauenheilkunde (01-10-2020)Get full text
Conference Proceeding -
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Premature ovarian failure (POF) syndrome: towards the molecular clinical analysis of its genetic complexity
Published in Current medicinal chemistry (01-05-2006)“…The Premature Ovarian Failure (POF) syndrome is a very heterogeneous clinical disorder due probably to the complex genetic networks controlling human…”
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High deletion frequency of the complete AZFa sequence in men with Sertoli-cell-only syndrome
Published in Molecular human reproduction (01-10-2001)“…We have developed a rapid screening protocol for deletion analysis of the complete AZFa sequence (i.e. 792 kb) on the Y chromosome of patients with idiopathic…”
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The azoospermia factor (AZF) of the human Y chromosome in Yq11: function and analysis in spermatogenesis
Published in Reproduction fertility and development (1995)“…Different Y mutations in Yq11 occurring de novo in sterile males were first described 19 years ago. Since the phenotype of the patients was always associated…”
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FMR1-Expression und mTOR/AKT-Signalkaskade – zwei potentielle Teamplayer der Follikulogenesekontrolle in humanen Granulosazellen
Published in Geburtshilfe und Frauenheilkunde (13-10-2016)“…Zielsetzung: Analyse einer möglicherweise gekoppelten Expression von FMR1 /FMRP (Fragile X Mental Retardation 1 Gen und Protein) und der Schlüsselgene des…”
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Expression of RBM in the Nuclei of Human Germ Cells is Dependent on a Critical Region of the Y Chromosome Long Arm
Published in Proceedings of the National Academy of Sciences - PNAS (15-04-1997)“…The association of abnormal spermatogenesis in men with Y chromosome deletions suggests that genes important for spermatogenesis have been removed from these…”
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