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Mutations in FKBP10 cause recessive osteogenesis imperfecta and bruck syndrome

Journal of bone and mineral research, 2011-03, Vol.26 (3), p.666-672

2011

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Mutations in GDAP1: autosomal recessive CMT with demyelination and axonopathy

Neurology, 2002-12, Vol.59 (12), p.1865

2002

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Is transient global amnesia (TGA) hereditary?

Journal of the neurological sciences, 2013-10, Vol.333, p.e664-e664

2013

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The Thr124Met mutation in the peripheral myelin protein zero (MPZ) gene is associated with a clinically distinct Charcot-Marie-Tooth phenotype

Brain (London, England : 1878), 1999-02, Vol.122 (2), p.281-290

1999

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Hereditary axonal neuropathy related to MME gene mutation in a family with fetomaternal alloimmune glomerulonephritis

Acta neurologica Belgica, 2020-02, Vol.120 (1), p.149-154

2020

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Allelic heterogeneity of SMARD1 at the IGHMBP2 locus

Human mutation, 2004-05, Vol.23 (5), p.525-526

2004

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17q21.31 microduplication patients are characterised by behavioural problems and poor social interaction

Journal of medical genetics, 2009-08, Vol.46 (8), p.524-530

2009

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Familial transient global amnesia: Report of 10 families

Journal of the neurological sciences, 2017-10, Vol.381, p.381-381

2017

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Mutation analysis of the MEN1 gene in Belgian patients with multiple endocrine neoplasia type 1 and related diseases

Human mutation, 1999, Vol.13 (1), p.54-60

1999

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Mutations in the PP2A regulatory subunit B family genes PPP2R5B, PPP2R5C and PPP2R5D cause human overgrowth

Human molecular genetics, 2015-09, Vol.24 (17), p.4775-4779

2015

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25 ans de l’association polypose adénomate familiale belge : résultats et enseignements d’un registre national

Journal de chirurgie viscérale, 2019-05, Vol.156, p.e17-e18

2019

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Heterozygous missense mutations in BSCL2 are associated with distal hereditary motor neuropathy and Silver syndrome

Nature genetics, 2004-03, Vol.36 (3), p.271-276

2004

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Valproic Acid Monotherapy in Pregnancy and Major Congenital Malformations

The New England journal of medicine, 2010-06, Vol.362 (23), p.2185-2193

2010

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Weaver syndrome and EZH2 mutations: Clarifying the clinical phenotype

American journal of medical genetics. Part A, 2013-12, Vol.161A (12), p.2972-2980

2013

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Familial juvenile hyperuricemic nephropathy and autosomal dominant medullary cystic kidney disease type 2 : Two facets of the same disease?

Journal of the American Society of Nephrology, 2001-11, Vol.12 (11), p.2348-2357

2001

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A conserved sorting-associated protein is mutant in chorea-acanthocytosis

Nature genetics, 2001-06, Vol.28 (2), p.119-120

2001

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Six families with van der Woude and/or popliteal pterygium syndrome: all with a mutation in the IRF6 gene

Journal of medical genetics, 2004-02, Vol.41 (2), p.e15-15

2004

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X-linked Alport syndrome : Natural history in 195 families and genotype- phenotype correlations in males

Journal of the American Society of Nephrology, 2000-04, Vol.11 (4), p.649-657

2000

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Isolated polycystic liver disease as a distinct genetic disease, unlinked to polycystic kidney disease 1 and polycystic kidney disease 2

Hepatology (Baltimore, Md.), 1996-02, Vol.23 (2), p.249-252

1996

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Preterm premature rupture of membranes in a patient with the hypermobility type of the Ehlers-Danlos syndrome : A case report

Fetal diagnosis and therapy, 1999-07, Vol.14 (4), p.244-247

1999

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Chorea associated with anti-phospholipid antibodies: case report

Acta clinica belgica (English ed. Online), 2010-09, Vol.65 (5), p.350-353

2010

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The phenotype of motor neuropathies associated with BSCL2 mutations is broader than Silver syndrome and distal HMN type V

Brain (London, England : 1878), 2004-09, Vol.127 (9), p.2124-2130

2004

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Hereditary motor and sensory neuropathy (HSMN) and foeto-maternal autoimmune glomerulopathy coexist in members of a family harbouring metallo-membrane-endopeptidase (MME) gene mutation

Journal of the neurological sciences, 2017-10, Vol.381, p.60-60

2017

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Tibial muscular dystrophy in a Belgian family

Annals of neurology, 2003-08, Vol.54 (2), p.248-251

2003

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A gene for an autosomal recessive lower motor neuron disease with childhood onset maps to 1p36

Neurology, 2006-07, Vol.67 (1), p.120

2006

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Mutations in FKBP10 cause recessive osteogenesis imperfecta and bruck syndrome

Mutations in GDAP1: autosomal recessive CMT with demyelination and axonopathy

Is transient global amnesia (TGA) hereditary?

The Thr124Met mutation in the peripheral myelin protein zero (MPZ) gene is associated with a clinically distinct Charcot-Marie-Tooth phenotype

Hereditary axonal neuropathy related to MME gene mutation in a family with fetomaternal alloimmune glomerulonephritis

Allelic heterogeneity of SMARD1 at the IGHMBP2 locus

17q21.31 microduplication patients are characterised by behavioural problems and poor social interaction

Familial transient global amnesia: Report of 10 families

Mutation analysis of the MEN1 gene in Belgian patients with multiple endocrine neoplasia type 1 and related diseases

Mutations in the PP2A regulatory subunit B family genes PPP2R5B, PPP2R5C and PPP2R5D cause human overgrowth

25 ans de l’association polypose adénomate familiale belge : résultats et enseignements d’un registre national

Heterozygous missense mutations in BSCL2 are associated with distal hereditary motor neuropathy and Silver syndrome

Valproic Acid Monotherapy in Pregnancy and Major Congenital Malformations

Weaver syndrome and EZH2 mutations: Clarifying the clinical phenotype

Familial juvenile hyperuricemic nephropathy and autosomal dominant medullary cystic kidney disease type 2 : Two facets of the same disease?

A conserved sorting-associated protein is mutant in chorea-acanthocytosis

Six families with van der Woude and/or popliteal pterygium syndrome: all with a mutation in the IRF6 gene

X-linked Alport syndrome : Natural history in 195 families and genotype- phenotype correlations in males

Isolated polycystic liver disease as a distinct genetic disease, unlinked to polycystic kidney disease 1 and polycystic kidney disease 2

Preterm premature rupture of membranes in a patient with the hypermobility type of the Ehlers-Danlos syndrome : A case report

Chorea associated with anti-phospholipid antibodies: case report

The phenotype of motor neuropathies associated with BSCL2 mutations is broader than Silver syndrome and distal HMN type V

Hereditary motor and sensory neuropathy (HSMN) and foeto-maternal autoimmune glomerulopathy coexist in members of a family harbouring metallo-membrane-endopeptidase (MME) gene mutation

Tibial muscular dystrophy in a Belgian family

A gene for an autosomal recessive lower motor neuron disease with childhood onset maps to 1p36

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