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Transforming Growth Factor-β1 to the Bone

Endocrine reviews, 2005-10, Vol.26 (6), p.743-774

2005

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Mechanisms of disease in hereditary sensory and autonomic neuropathies

Nature reviews. Neurology, 2012-02, Vol.8 (2), p.73

2012

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Novel presentation of AADC deficiency as a mild phenotype with exercise-induced dystonic crises: A case report

Heliyon, 2024-01, Vol.10 (1), p.e23746, Article e23746

2024

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Mutations in the SPTLC2 Subunit of Serine Palmitoyltransferase Cause Hereditary Sensory and Autonomic Neuropathy Type I

American journal of human genetics, 2010-10, Vol.87 (4), p.513-522

2010

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Implementation of Exome Sequencing in Prenatal Diagnostics: Chances and Challenges

Diagnostics (Basel), 2023-02, Vol.13 (5), p.860

2023

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Cell-Free DNA From Metastatic Pancreatic Neuroendocrine Tumor Patients Contains Tumor-Specific Mutations and Copy Number Variations

Frontiers in oncology, 2018-11, Vol.8, p.467-467

2018

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Human Rab7 mutation mimics features of Charcot–Marie–Tooth neuropathy type 2B in Drosophila

Neurobiology of disease, 2014-05, Vol.65, p.211-219

2014

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Pushing the Limits of Prenatal Ultrasound: A Case of Dorsal Dermal Sinus Associated with an Overt Arnold–Chiari Malformation and a 3q Duplication

Reproductive medicine (Basel, Switzerland), 2021-09, Vol.2 (3), p.118-124

2021

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Terminal deletion of chromosome 13 in a fetus with normal NIPT: The added value of invasive prenatal diagnosis in the NIPT era

Clinical case reports, 2020-08, Vol.8 (8), p.1461-1466

2020

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Tetrasomy 9p, a Prenatal Challenge: Two Novel Cases

Reproductive medicine (Basel, Switzerland), 2022-03, Vol.3 (1), p.42-49

2022

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Loss-of-function mutations in LEMD3 result in osteopoikilosis, Buschke-Ollendorff syndrome and melorheostosis

Nature genetics, 2004-11, Vol.36 (11), p.1213-1218

2004

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Genetic Testing Contributes to Diagnosis in Cerebral Palsy: Aicardi-Goutières Syndrome as an Example

Frontiers in neurology, 2021-04, Vol.12, p.617813-617813

2021

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Direct detection of guidance receptor activity during border cell migration

Proceedings of the National Academy of Sciences - PNAS, 2010-04, Vol.107 (16), p.7323-7328

2010

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The impact of confined placental mosaicism on prenatal cell-free DNA screening: Insights from a monocentric study of 99 cases

Placenta (Eastbourne), 2024-07, Vol.152, p.17-22

2024

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Transforming Growth Factor-β1 Mutations in Camurati-Engelmann Disease Lead to Increased Signaling by Altering either Activation or Secretion of the Mutant Protein

The Journal of biological chemistry, 2003-02, Vol.278 (9), p.7718-7724

2003

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Non‐invasive prenatal testing detects blood chimerism in dizygotic twins

Prenatal diagnosis, 2022-02, Vol.42 (2), p.236-239

2022

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Monocentric Study on the Performance of Noninvasive Prenatal Testing on Cell‐Free DNA for the Detection of Monosomy X

Prenatal diagnosis, 2024-08

2024

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Mutations in the gene encoding the latency-associated peptide of TGF-β1 cause Camurati-Engelmann disease

Nature genetics, 2000-11, Vol.26 (3), p.273-275

2000

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Confirmation of gray matter heterotopia as part of the DDX23 phenotypic spectrum

American journal of medical genetics. Part A, 2023-09, Vol.191 (9), p.2451-2453

2023

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Characterization of EVL-I as a protein kinase D substrate

Cellular signalling, 2009-02, Vol.21 (2), p.282-292

2009

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Transforming Growth Factor- beta 1 to the Bone

Endocrine reviews, 2005-10, Vol.26 (6), p.743-774

2005

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Chromosomal microarray analysis in prenatal diagnosis: ethical considerations of the Belgian approach

Journal of medical ethics, 2020-02, Vol.46 (2), p.104

2020

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The Genetic Puzzle of Cerebral Palsy: Results of a Monocentric Study

Pediatric neurology, 2024-12, Vol.161, p.1-8

2024

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Longitudinal Copy-Number Alteration Analysis in Plasma Cell-Free DNA of Neuroendocrine Neoplasms is a Novel Specific Biomarker for Diagnosis, Prognosis, and Follow-up

Clinical cancer research, 2022-01, Vol.28 (2), p.338-349

2022

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Transforming Growth Factor-β1 to the Bone

Mechanisms of disease in hereditary sensory and autonomic neuropathies

Outcome of publicly funded nationwide first-tier noninvasive prenatal screening

Novel presentation of AADC deficiency as a mild phenotype with exercise-induced dystonic crises: A case report

Mutations in the SPTLC2 Subunit of Serine Palmitoyltransferase Cause Hereditary Sensory and Autonomic Neuropathy Type I

Implementation of Exome Sequencing in Prenatal Diagnostics: Chances and Challenges

Cell-Free DNA From Metastatic Pancreatic Neuroendocrine Tumor Patients Contains Tumor-Specific Mutations and Copy Number Variations

Human Rab7 mutation mimics features of Charcot–Marie–Tooth neuropathy type 2B in Drosophila

Pushing the Limits of Prenatal Ultrasound: A Case of Dorsal Dermal Sinus Associated with an Overt Arnold–Chiari Malformation and a 3q Duplication

Terminal deletion of chromosome 13 in a fetus with normal NIPT: The added value of invasive prenatal diagnosis in the NIPT era

Tetrasomy 9p, a Prenatal Challenge: Two Novel Cases

Loss-of-function mutations in LEMD3 result in osteopoikilosis, Buschke-Ollendorff syndrome and melorheostosis

Genetic Testing Contributes to Diagnosis in Cerebral Palsy: Aicardi-Goutières Syndrome as an Example

Direct detection of guidance receptor activity during border cell migration

The impact of confined placental mosaicism on prenatal cell-free DNA screening: Insights from a monocentric study of 99 cases

Transforming Growth Factor-β1 Mutations in Camurati-Engelmann Disease Lead to Increased Signaling by Altering either Activation or Secretion of the Mutant Protein

Non‐invasive prenatal testing detects blood chimerism in dizygotic twins

Monocentric Study on the Performance of Noninvasive Prenatal Testing on Cell‐Free DNA for the Detection of Monosomy X

Mutations in the gene encoding the latency-associated peptide of TGF-β1 cause Camurati-Engelmann disease

Confirmation of gray matter heterotopia as part of the DDX23 phenotypic spectrum

Characterization of EVL-I as a protein kinase D substrate

Transforming Growth Factor- beta 1 to the Bone

Chromosomal microarray analysis in prenatal diagnosis: ethical considerations of the Belgian approach

The Genetic Puzzle of Cerebral Palsy: Results of a Monocentric Study

Longitudinal Copy-Number Alteration Analysis in Plasma Cell-Free DNA of Neuroendocrine Neoplasms is a Novel Specific Biomarker for Diagnosis, Prognosis, and Follow-up

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