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Mutations in DNAH1, which Encodes an Inner Arm Heavy Chain Dynein, Lead to Male Infertility from Multiple Morphological Abnormalities of the Sperm Flagella

American journal of human genetics, 2014-01, Vol.94 (1), p.95-104

2014

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BMP9 and BMP10 are critical for postnatal retinal vascular remodeling

Blood, 2012-06, Vol.119 (25), p.6162-6171

2012

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CFAP70 mutations lead to male infertility due to severe astheno-teratozoospermia. A case report

Human reproduction (Oxford), 2019-10, Vol.34 (10), p.2071-2079

2019

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BMP9 is produced by hepatocytes and circulates mainly in an active mature form complexed to its prodomain

Cellular and molecular life sciences : CMLS, 2012-01, Vol.69 (2), p.313-324

2012

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BMP9 and BMP10 are necessary for proper closure of the ductus arteriosus

Proceedings of the National Academy of Sciences - PNAS, 2015-06, Vol.112 (25), p.E3207-E3215

2015

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BRCA1 Intragenic Duplication Combined with a Likely Pathogenic TP53 Variant in a Patient with Triple-Negative Breast Cancer: Clinical Risk and Management

International journal of molecular sciences, 2024-06, Vol.25 (11), p.6274

2024

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Monitoring monoclonal antibody delivery in oncology: the example of bevacizumab

PloS one, 2013-08, Vol.8 (8), p.e72021

2013

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New Mutations in DNHD1 Cause Multiple Morphological Abnormalities of the Sperm Flagella

International journal of molecular sciences, 2023-02, Vol.24 (3), p.2559

2023

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Sperm Meiotic Segregation Analysis of Reciprocal Translocations Carriers: We Have Bigger FISH to Fry

International journal of molecular sciences, 2023-02, Vol.24 (4), p.3664

2023

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FISH and Chimps: Insights into Frequency and Distribution of Sperm Aneuploidy in Chimpanzees (Pan troglodytes)

International journal of molecular sciences, 2021-10, Vol.22 (19), p.10383

2021

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MALDI-TOF MS in a Medical Mycology Laboratory: On Stage and Backstage

Microorganisms (Basel), 2021-06, Vol.9 (6), p.1283

2021

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Functional analysis of the BMP9 response of ALK1 mutants from HHT2 patients: a diagnostic tool for novel ACVRL1 mutations

Blood, 2010-09, Vol.116 (9), p.1604-1612

2010

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An in-house assay is superior to Sepsityper for direct matrix-assisted laser desorption ionization-time of flight (MALDI-TOF) mass spectrometry identification of yeast species in blood cultures

Journal of clinical microbiology, 2015-05, Vol.53 (5), p.1761-1764

2015

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Characterization of the 9L gliosarcoma implanted in the Fischer rat: an orthotopic model for a grade IV brain tumor

Tumor biology, 2014-07, Vol.35 (7), p.6221-6233

2014

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Germline POT1 mutation and neuroblastoma: A mere coincidence or true association

Pediatric blood & cancer, 2024-07, Vol.71 (7), p.e31054-n/a

2024

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Reprogramming glioma cell cultures with retinoic acid: Additional arguments for reappraising the potential of retinoic acid in the context of personalized glioma therapy

Glioma, 2018, Vol.1 (2), p.66-78

2018

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Whole-exome sequencing identifies mutations in FSIP2 as a recurrent cause of multiple morphological abnormalities of the sperm flagella

Human reproduction (Oxford), 2018-10, Vol.33 (10), p.1973-1984

2018

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Perilymph metabolomic and proteomic MALDI-ToF profiling with porous silicon chips: A proof-of-concept study

Hearing research, 2022-04, Vol.417, p.108457-108457, Article 108457

2022

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Biallelic variants in MAATS1 encoding CFAP91, a calmodulin-associated and spoke-associated complex protein, cause severe astheno-teratozoospermia and male infertility

Journal of medical genetics, 2020-10, Vol.57 (10), p.708-716

2020

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Digital PCR for Detection and Quantification of Fluoroquinolone Resistance in Legionella pneumophila

Antimicrobial agents and chemotherapy, 2017-09, Vol.61 (9), p.e00628-17

2017

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Classification of 101 BRCA1 and BRCA2 variants of uncertain significance by cosegregation study: A powerful approach

American journal of human genetics, 2021-10, Vol.108 (10), p.1907-1923

2021

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OTX2 duplications: a recurrent cause of oculo-auriculo-vertebral spectrum

Journal of medical genetics, 2023-06, Vol.60 (6), p.620-626

2023

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Bi-allelic truncating variants in CFAP206 cause male infertility in human and mouse

Human genetics, 2021-09, Vol.140 (9), p.1367-1377

2021

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MALDI-TOF mass spectrometry for rapid diagnosis of postoperative endophthalmitis

Journal of proteomics, 2017-01, Vol.152, p.150-152

2017

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Bi-allelic Mutations in ARMC2 Lead to Severe Astheno-Teratozoospermia Due to Sperm Flagellum Malformations in Humans and Mice

Mutations in DNAH1, which Encodes an Inner Arm Heavy Chain Dynein, Lead to Male Infertility from Multiple Morphological Abnormalities of the Sperm Flagella

BMP9 and BMP10 are critical for postnatal retinal vascular remodeling

CFAP70 mutations lead to male infertility due to severe astheno-teratozoospermia. A case report

BMP9 is produced by hepatocytes and circulates mainly in an active mature form complexed to its prodomain

BMP9 and BMP10 are necessary for proper closure of the ductus arteriosus

BRCA1 Intragenic Duplication Combined with a Likely Pathogenic TP53 Variant in a Patient with Triple-Negative Breast Cancer: Clinical Risk and Management

Monitoring monoclonal antibody delivery in oncology: the example of bevacizumab

New Mutations in DNHD1 Cause Multiple Morphological Abnormalities of the Sperm Flagella

Sperm Meiotic Segregation Analysis of Reciprocal Translocations Carriers: We Have Bigger FISH to Fry

FISH and Chimps: Insights into Frequency and Distribution of Sperm Aneuploidy in Chimpanzees (Pan troglodytes)

MALDI-TOF MS in a Medical Mycology Laboratory: On Stage and Backstage

Functional analysis of the BMP9 response of ALK1 mutants from HHT2 patients: a diagnostic tool for novel ACVRL1 mutations

An in-house assay is superior to Sepsityper for direct matrix-assisted laser desorption ionization-time of flight (MALDI-TOF) mass spectrometry identification of yeast species in blood cultures

Characterization of the 9L gliosarcoma implanted in the Fischer rat: an orthotopic model for a grade IV brain tumor

Germline POT1 mutation and neuroblastoma: A mere coincidence or true association

Reprogramming glioma cell cultures with retinoic acid: Additional arguments for reappraising the potential of retinoic acid in the context of personalized glioma therapy

Whole-exome sequencing identifies mutations in FSIP2 as a recurrent cause of multiple morphological abnormalities of the sperm flagella

Perilymph metabolomic and proteomic MALDI-ToF profiling with porous silicon chips: A proof-of-concept study

Biallelic variants in MAATS1 encoding CFAP91, a calmodulin-associated and spoke-associated complex protein, cause severe astheno-teratozoospermia and male infertility

Digital PCR for Detection and Quantification of Fluoroquinolone Resistance in Legionella pneumophila

Classification of 101 BRCA1 and BRCA2 variants of uncertain significance by cosegregation study: A powerful approach

OTX2 duplications: a recurrent cause of oculo-auriculo-vertebral spectrum

Bi-allelic truncating variants in CFAP206 cause male infertility in human and mouse

MALDI-TOF mass spectrometry for rapid diagnosis of postoperative endophthalmitis

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