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The Ehlers-Danlos syndrome, a disorder with many faces

Clinical genetics, 2012-07, Vol.82 (1), p.1-11

2012

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Acceptability and feasibility of the mHealth intervention ‘MyDayPlan’ to increase physical activity in a general adult population

BMC public health, 2020-06, Vol.20 (1), p.1-1032, Article 1032

2020

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Effectiveness of the mHealth intervention ‘MyDayPlan’ to increase physical activity: an aggregated single case approach

The international journal of behavioral nutrition and physical activity, 2021-07, Vol.18 (1), p.1-92, Article 92

2021

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Mutations in fibrillin-1 cause congenital scleroderma: stiff skin syndrome

Science translational medicine, 2010-03, Vol.2 (23), p.23ra20

2010

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Zebrafish Collagen Type I: Molecular and Biochemical Characterization of the Major Structural Protein in Bone and Skin

Scientific reports, 2016-02, Vol.6 (1), p.21540-21540, Article 21540

2016

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The molecular genetics of Marfan syndrome and related disorders

Journal of Medical Genetics, 2006-10, Vol.43 (10), p.769-787

2006

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The genetic basis of the joint hypermobility syndromes

Rheumatology (Oxford, England), 2006-05, Vol.45 (5), p.502-507

2006

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Identification of a novel recurrent 1q42.2-1qter deletion in high risk MYCN single copy 11q deleted neuroblastomas

International journal of cancer, 2012-06, Vol.130 (11), p.2599-2606

2012

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Clinical and genetic aspects of Ehlers-Danlos syndrome, classic type

Genetics in medicine, 2010-10, Vol.12 (10), p.597-605

2010

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Total absence of the alpha2(I) chain of collagen type I causes a rare form of Ehlers-Danlos syndrome with hypermobility and propensity to cardiac valvular problems

Journal of medical genetics, 2006-07, Vol.43 (7), p.e36

2006

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Two Cases of Post-Traumatic Mucormycosis due to Mucor circinelloides: Salvage Therapy with a Combination of Adjunctive Therapies

Case reports in infectious diseases, 2022, Vol.2022, p.4949426-8

2022

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Deletions Involving Long-Range Conserved Nongenic Sequences Upstream and Downstream of FOXL2 as a Novel Disease-Causing Mechanism in Blepharophimosis Syndrome

American journal of human genetics, 2005-08, Vol.77 (2), p.205-218

2005

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The Art of Measuring in the Thermal Sciences

1, 2021

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A new recurrent inversion, inv(7)(p15q34), leads to transcriptional activation of HOXA10 and HOXA11 in a subset of T-cell acute lymphoblastic leukemias

Leukemia, 2005-03, Vol.19 (3), p.358-366

2005

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Ehlers-Danlos arthrochalasia type (VIIA-B) - expanding the phenotype: from prenatal life through adulthood

Clinical genetics, 2012-08, Vol.82 (2), p.121-130

2012

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BRCA1 and BRCA2 germline mutation spectrum and frequencies in Belgian breast/ovarian cancer families

British journal of cancer, 2004-03, Vol.90 (6), p.1244-1251

2004

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Effect of Mutation Type and Location on Clinical Outcome in 1,013 Probands with Marfan Syndrome or Related Phenotypes and FBN1 Mutations: An International Study

American journal of human genetics, 2007-09, Vol.81 (3), p.454-466

2007

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Molecular cytogenetic study of 126 unselected T-ALL cases reveals high incidence of TCRβ locus rearrangements and putative new T-cell oncogenes

Leukemia, 2006-07, Vol.20 (7), p.1238-1244

2006

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Emerging patterns of cryptic chromosomal imbalance in patients with idiopathic mental retardation and multiple congenital anomalies: a new series of 140 patients and review of published reports

Journal of medical genetics, 2006-08, Vol.43 (8), p.625-633

2006

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Pharmacogenomics in Children: Advantages and Challenges of Next Generation Sequencing Applications

International Journal of Pediatrics, 2013-01, Vol.2013 (2013), p.4-11

2013

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Mutation analysis of P73 and TP53 in Merkel cell carcinoma

British journal of cancer, 2000-02, Vol.82 (4), p.823-826

2000

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Molecular cytogenetic analysis of 10;11 rearrangements in acute myeloid leukemia

Leukemia, 2002-03, Vol.16 (3), p.344-351

2002

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Escape from p53-mediated tumor surveillance in neuroblastoma: switching off the p14 -MDM2-p53 axis

Cell death and differentiation, 2009-12, Vol.16 (12), p.1563-1572

2009

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Abnormal dentin structure in two novel gene mutations [ COL1A1 , Arg134Cys] and [ ADAMTS2 , Trp795-to-ter] causing rare type I collagen disorders

Archives of oral biology, 2007-02, Vol.52 (2), p.101-109

2007

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Mutation detection in the ABCC6 gene and genotype–phenotype analysis in a large international case series affected by pseudoxanthoma elasticum

Journal of medical genetics, 2007-10, Vol.44 (10), p.621-628

2007

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The Ehlers-Danlos syndrome, a disorder with many faces

Acceptability and feasibility of the mHealth intervention ‘MyDayPlan’ to increase physical activity in a general adult population

Effectiveness of the mHealth intervention ‘MyDayPlan’ to increase physical activity: an aggregated single case approach

Mutations in fibrillin-1 cause congenital scleroderma: stiff skin syndrome

Zebrafish Collagen Type I: Molecular and Biochemical Characterization of the Major Structural Protein in Bone and Skin

The molecular genetics of Marfan syndrome and related disorders

The genetic basis of the joint hypermobility syndromes

Identification of a novel recurrent 1q42.2-1qter deletion in high risk MYCN single copy 11q deleted neuroblastomas

Clinical and genetic aspects of Ehlers-Danlos syndrome, classic type

Total absence of the alpha2(I) chain of collagen type I causes a rare form of Ehlers-Danlos syndrome with hypermobility and propensity to cardiac valvular problems

Two Cases of Post-Traumatic Mucormycosis due to Mucor circinelloides: Salvage Therapy with a Combination of Adjunctive Therapies

Deletions Involving Long-Range Conserved Nongenic Sequences Upstream and Downstream of FOXL2 as a Novel Disease-Causing Mechanism in Blepharophimosis Syndrome

The Art of Measuring in the Thermal Sciences

A new recurrent inversion, inv(7)(p15q34), leads to transcriptional activation of HOXA10 and HOXA11 in a subset of T-cell acute lymphoblastic leukemias

Ehlers-Danlos arthrochalasia type (VIIA-B) - expanding the phenotype: from prenatal life through adulthood

BRCA1 and BRCA2 germline mutation spectrum and frequencies in Belgian breast/ovarian cancer families

Effect of Mutation Type and Location on Clinical Outcome in 1,013 Probands with Marfan Syndrome or Related Phenotypes and FBN1 Mutations: An International Study

Molecular cytogenetic study of 126 unselected T-ALL cases reveals high incidence of TCRβ locus rearrangements and putative new T-cell oncogenes

Emerging patterns of cryptic chromosomal imbalance in patients with idiopathic mental retardation and multiple congenital anomalies: a new series of 140 patients and review of published reports

Pharmacogenomics in Children: Advantages and Challenges of Next Generation Sequencing Applications

Mutation analysis of P73 and TP53 in Merkel cell carcinoma

Molecular cytogenetic analysis of 10;11 rearrangements in acute myeloid leukemia

Escape from p53-mediated tumor surveillance in neuroblastoma: switching off the p14 -MDM2-p53 axis

Abnormal dentin structure in two novel gene mutations [ COL1A1 , Arg134Cys] and [ ADAMTS2 , Trp795-to-ter] causing rare type I collagen disorders

Mutation detection in the ABCC6 gene and genotype–phenotype analysis in a large international case series affected by pseudoxanthoma elasticum

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