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Influence of intermediate and uninterrupted FMR1 CGG expansions in premature ovarian failure manifestation

Human reproduction (Oxford), 2006-04, Vol.21 (4), p.952-957

2006

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Heritability of young- and old-onset ischaemic stroke

European journal of neurology, 2015-11, Vol.22 (11), p.1488-1491

2015

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A large-scale association study to assess the impact of known variants of the human INHA gene on premature ovarian failure

Human reproduction (Oxford), 2009-08, Vol.24 (8), p.2023-2028

2009

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Mutation analysis of two candidate genes for premature ovarian failure, DACH2 and POF1B

Human reproduction (Oxford), 2004-12, Vol.19 (12), p.2759-2766

2004

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Sequence variation at the human FOXO3 locus: a study of premature ovarian failure and primary amenorrhea

Human reproduction (Oxford), 2008-01, Vol.23 (1), p.216-221

2008

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A Family of Transmembrane Proteins with Homology to the MET-Hepatocyte Growth Factor Receptor

Proceedings of the National Academy of Sciences - PNAS, 1996-01, Vol.93 (2), p.674-678

1996

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Alterations in the expression, structure and function of progesterone receptor membrane component-1 (PGRMC1) in premature ovarian failure

Human molecular genetics, 2008-12, Vol.17 (23), p.3776-3783

2008

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X Chromosome Genes and Premature Ovarian Failure

Seminars in reproductive medicine, 2000, Vol.18 (1), p.051-058

2000

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Transcriptional Organization of a 450-kb Region of the Human X Chromosome in Xq28

Proceedings of the National Academy of Sciences - PNAS, 1993-12, Vol.90 (23), p.10977-10981

1993

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Different Mutations in the LMNA Gene Cause Autosomal Dominant and Autosomal Recessive Emery-Dreifuss Muscular Dystrophy

American journal of human genetics, 2000-04, Vol.66 (4), p.1407-1412

2000

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Identification of a novel X-linked gene responsible for Emery-Dreifuss muscular dystrophy

Nature genetics, 1994-12, Vol.8 (4), p.323-327

1994

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The WHO maternal near-miss approach and the maternal severity index model (MSI): tools for assessing the management of severe maternal morbidity

PloS one, 2012-08, Vol.7 (8), p.e44129-e44129

2012

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X-linked emery-dreifuss muscular dystrophy can be diagnosed from skin biopsy or blood sample

Annals of neurology, 1997-08, Vol.42 (2), p.249-253

1997

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Delays in receiving obstetric care and poor maternal outcomes: results from a national multicentre cross-sectional study

BMC pregnancy and childbirth, 2014-05, Vol.14 (1), p.159-159, Article 159

2014

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An X chromosome-linked gene encoding a protein with characteristics of a rhoGAP predominantly expressed in hematopoietic cells

Proceedings of the National Academy of Sciences - PNAS, 1996-01, Vol.93 (2), p.695-699

1996

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Blood cell mitochondrial DNA content and premature ovarian aging

PloS one, 2012-08, Vol.7 (8), p.e42423-e42423

2012

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Network for Surveillance of Severe Maternal Morbidity: a powerful national collaboration generating data on maternal health outcomes and care

BJOG : an international journal of obstetrics and gynaecology, 2016-05, Vol.123 (6), p.946-953

2016

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A novel X-linked gene, G4.5. is responsible for Barth syndrome

Nature genetics, 1996-04, Vol.12 (4), p.385-389

1996

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Isolation of new genes in distal Xq28: transcriptional map and identification of a human homologue of the ARD1 N-acetyl transferase of Saccharomyces cerevisiae

Human molecular genetics, 1994-07, Vol.3 (7), p.1061-1067

1994

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Adverse perinatal outcomes are associated with severe maternal morbidity and mortality: evidence from a national multicentre cross-sectional study

Archives of gynecology and obstetrics, 2019-03, Vol.299 (3), p.645-654

2019

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A Human Homologue of the Drosophila melanogaster diaphanous Gene Is Disrupted in a Patient with Premature Ovarian Failure: Evidence for Conserved Function in Oogenesis and Implications for Human Sterility

American journal of human genetics, 1998-03, Vol.62 (3), p.533-541

1998

Volltextzugriff (PDF)

Variation of hemoglobin levels in normal Italian populations from genetic isolates

Haematologica (Roma), 2008-09, Vol.93 (9), p.1372-1375

2008

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Epigenetic control of the critical region for premature ovarian failure on autosomal genes translocated to the X chromosome : a hypothesis

Human genetics, 2007-05, Vol.121 (3-4), p.441-450

2007

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Cross-analysis of gene and miRNA genome-wide expression profiles in human fibroblasts at different stages of transformation

Omics (Larchmont, N.Y.), 2012-02, Vol.16 (1-2), p.24

2012

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Unusual expression of emerin in a patient with X-linked Emery–Dreifuss muscular dystrophy

Neuromuscular disorders : NMD, 2000-12, Vol.10 (8), p.567-571

2000

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Influence of intermediate and uninterrupted FMR1 CGG expansions in premature ovarian failure manifestation

Heritability of young- and old-onset ischaemic stroke

A large-scale association study to assess the impact of known variants of the human INHA gene on premature ovarian failure

Mutation analysis of two candidate genes for premature ovarian failure, DACH2 and POF1B

Sequence variation at the human FOXO3 locus: a study of premature ovarian failure and primary amenorrhea

A Family of Transmembrane Proteins with Homology to the MET-Hepatocyte Growth Factor Receptor

Alterations in the expression, structure and function of progesterone receptor membrane component-1 (PGRMC1) in premature ovarian failure

X Chromosome Genes and Premature Ovarian Failure

Transcriptional Organization of a 450-kb Region of the Human X Chromosome in Xq28

Different Mutations in the LMNA Gene Cause Autosomal Dominant and Autosomal Recessive Emery-Dreifuss Muscular Dystrophy

Identification of a novel X-linked gene responsible for Emery-Dreifuss muscular dystrophy

The WHO maternal near-miss approach and the maternal severity index model (MSI): tools for assessing the management of severe maternal morbidity

X-linked emery-dreifuss muscular dystrophy can be diagnosed from skin biopsy or blood sample

Delays in receiving obstetric care and poor maternal outcomes: results from a national multicentre cross-sectional study

An X chromosome-linked gene encoding a protein with characteristics of a rhoGAP predominantly expressed in hematopoietic cells

Blood cell mitochondrial DNA content and premature ovarian aging

Network for Surveillance of Severe Maternal Morbidity: a powerful national collaboration generating data on maternal health outcomes and care

A novel X-linked gene, G4.5. is responsible for Barth syndrome

Isolation of new genes in distal Xq28: transcriptional map and identification of a human homologue of the ARD1 N-acetyl transferase of Saccharomyces cerevisiae

Adverse perinatal outcomes are associated with severe maternal morbidity and mortality: evidence from a national multicentre cross-sectional study

A Human Homologue of the Drosophila melanogaster diaphanous Gene Is Disrupted in a Patient with Premature Ovarian Failure: Evidence for Conserved Function in Oogenesis and Implications for Human Sterility

Variation of hemoglobin levels in normal Italian populations from genetic isolates

Epigenetic control of the critical region for premature ovarian failure on autosomal genes translocated to the X chromosome : a hypothesis

Cross-analysis of gene and miRNA genome-wide expression profiles in human fibroblasts at different stages of transformation

Unusual expression of emerin in a patient with X-linked Emery–Dreifuss muscular dystrophy

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