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In situ optical sequencing and structure analysis of a trinucleotide repeat genome region by localization microscopy after specific COMBO-FISH nano-probing

Nanoscale, 2015-11, Vol.7 (42), p.17938-17946

2015

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Loss of function of PGAP1 as a cause of severe encephalopathy identified by Whole Exome Sequencing: Lessons of the bioinformatics pipeline

Molecular and cellular probes, 2015-10, Vol.29 (5), p.323-329

2015

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Epigenetics and genetics of pulmonary arterial hypertension--new insights from the last years

Deutsche medizinische Wochenschrift (1946), 2014-12, Vol.139 Suppl 4, p.S111

2014

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Characterization of large deletions in the DHCR7 gene

Clinical genetics, 2015-08, Vol.88 (2), p.149-154

2015

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Silver-Russell syndrome due to maternal uniparental disomy 7 and a familial reciprocal translocation t(7;13)

Clinical genetics, 2012-11, Vol.82 (5), p.494-498

2012

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Craniofrontonasal syndrome in a male due to chromosomal mosaicism involving EFNB1: further insights into a genetic paradox

Clinical genetics, 2014-04, Vol.85 (4), p.347-353

2014

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P-522 Impact of TGFß/BMP/SMAD Pathway on Premature Ovarian Insuffiency (POI)

Human reproduction (Oxford), 2024-07, Vol.39 (Supplement_1)

2024

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P-651 The role of FMR1-associated miR-323a and its impact on SMAD-signaling pathway in relation to the regulation of ovarian function

Human reproduction (Oxford), 2023-06, Vol.38 (Supplement_1)

2023

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P-543 The role of FMRP-associated microRNAs miR-125b and miR-132 and their target genes in the regulation of ovarian function

Human reproduction (Oxford), 2022-06, Vol.37 (Supplement_1)

2022

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P–514 RAN-Translation in Fragile X associated Premature Ovarian Insufficiency (FXPOI): FMRpolyG as a predictive tool

Human reproduction (Oxford), 2021-08, Vol.36 (Supplement_1)

2021

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O-080 Activated AKT/mTOR signalling in peripheral blood of women with premature ovarian insufficiency and its correlation with variable FMR1 expression profiles

Human reproduction (Oxford), 2021-08, Vol.36 (Supplement_1)

2021

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RAN-Translation in fragile X associated Premature Ovarian Insufficiency (FXPOI) FMRpolyG as predictive tool?

Geburtshilfe und Frauenheilkunde, 2020, Vol.80 (10)

2020

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High frequency of p.Thr93Met in Smith-Lemli-Opitz syndrome patients in Turkey

Clinical genetics, 2012-06, Vol.81 (6), p.598-601

2012

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Glucocorticoid withdrawal - heterozygous carriers of congenital adrenal hyperplasia at risk?

Klinische Padiatrie, 2012-11, Vol.224 (6), p.392

2012

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Identification of a transcription factor specifically expressed at the onset of leaf senescence

Planta, 2001-07, Vol.213 (3), p.469-473

2001

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1207Mutations in the bone morphogenic protein receptor 2 promoter in heritable pulmonary arterial hypertension

European heart journal, 2018-08, Vol.39 (suppl_1)

2018

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A new fast molecular genetic diagnostic approach for pulmonary arterial hypertension

Pneumologie (Stuttgart, Germany), 2016-07, Vol.70 (7)

2016

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A new gene for heritable pulmonary arterial hypertension: Krüppel-like factor 2

Pneumologie (Stuttgart, Germany), 2017-02, Vol.71 (S 01), p.S1-S125

2017

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Der FMR1 CGG-Genotyp beeinflusst die granulosazelluläre FMR1 Expression bei Frauen mit Poor Ovarian Response

Geburtshilfe und Frauenheilkunde, 2017, Vol.77 (8)

2017

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Genetically Misdiagnosed Duchenne: Confirmation of a Becker Muscle Dystrophy with Proof of an In-Frame Mutation with Deletion of Three Additional Exons on mRNA Level Based on Experimental cDNA Analysis

Neuropediatrics, 2015, Vol.46 (S 01)

2015

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BMPR2 gene promoter variants analysis in pulmonary arterial hypertension

Pneumologie (Stuttgart, Germany), 2018, Vol.72 (S 01), p.S114-S114

2018

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Common genetic basis for pulmonary arterial hypertension and high altitude pulmonary edema

Pneumologie (Stuttgart, Germany), 2018, Vol.72 (S 01), p.S64-S64

2018

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3p25.3 microdeletion of GABA transporters SLC6A1 and SLC6A11 results in intellectual disability, epilepsy and stereotypic behavior

American journal of medical genetics. Part A, 2014-12, Vol.164A (12), p.3061-3068

2014

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Epigenetik und Genetik der pulmonal arteriellen Hypertonie – neue Erkenntnisse der letzten Jahre

Deutsche medizinische Wochenschrift, 2014-12, Vol.139 (S 04), p.S111-S115

2014

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Genetische Untersuchungen bei Kindern mit idiopathischer, hereditärer und mit angeborenem Herzfehler assoziierter pulmonal arterieller Hypertonie

Pneumologie (Stuttgart, Germany), 2013, Vol.67 (S 01)

2013

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In situ optical sequencing and structure analysis of a trinucleotide repeat genome region by localization microscopy after specific COMBO-FISH nano-probing

Loss of function of PGAP1 as a cause of severe encephalopathy identified by Whole Exome Sequencing: Lessons of the bioinformatics pipeline

Epigenetics and genetics of pulmonary arterial hypertension--new insights from the last years

Characterization of large deletions in the DHCR7 gene

Silver-Russell syndrome due to maternal uniparental disomy 7 and a familial reciprocal translocation t(7;13)

Craniofrontonasal syndrome in a male due to chromosomal mosaicism involving EFNB1: further insights into a genetic paradox

P-522 Impact of TGFß/BMP/SMAD Pathway on Premature Ovarian Insuffiency (POI)

P-651 The role of FMR1-associated miR-323a and its impact on SMAD-signaling pathway in relation to the regulation of ovarian function

P-543 The role of FMRP-associated microRNAs miR-125b and miR-132 and their target genes in the regulation of ovarian function

P–514 RAN-Translation in Fragile X associated Premature Ovarian Insufficiency (FXPOI): FMRpolyG as a predictive tool

O-080 Activated AKT/mTOR signalling in peripheral blood of women with premature ovarian insufficiency and its correlation with variable FMR1 expression profiles

RAN-Translation in fragile X associated Premature Ovarian Insufficiency (FXPOI) FMRpolyG as predictive tool?

High frequency of p.Thr93Met in Smith-Lemli-Opitz syndrome patients in Turkey

Glucocorticoid withdrawal - heterozygous carriers of congenital adrenal hyperplasia at risk?

Identification of a transcription factor specifically expressed at the onset of leaf senescence

1207Mutations in the bone morphogenic protein receptor 2 promoter in heritable pulmonary arterial hypertension

A new fast molecular genetic diagnostic approach for pulmonary arterial hypertension

A new gene for heritable pulmonary arterial hypertension: Krüppel-like factor 2

Der FMR1 CGG-Genotyp beeinflusst die granulosazelluläre FMR1 Expression bei Frauen mit Poor Ovarian Response

Genetically Misdiagnosed Duchenne: Confirmation of a Becker Muscle Dystrophy with Proof of an In-Frame Mutation with Deletion of Three Additional Exons on mRNA Level Based on Experimental cDNA Analysis

BMPR2 gene promoter variants analysis in pulmonary arterial hypertension

Common genetic basis for pulmonary arterial hypertension and high altitude pulmonary edema

3p25.3 microdeletion of GABA transporters SLC6A1 and SLC6A11 results in intellectual disability, epilepsy and stereotypic behavior

Epigenetik und Genetik der pulmonal arteriellen Hypertonie – neue Erkenntnisse der letzten Jahre

Genetische Untersuchungen bei Kindern mit idiopathischer, hereditärer und mit angeborenem Herzfehler assoziierter pulmonal arterieller Hypertonie

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