L. Maldergem

发表

FLNC pathogenic variants in patients with cardiomyopathies: Prevalence and genotype‐phenotype correlations

C. Perret, A. Hagège, X. Jeunemaître, 2019, Clinical genetics.

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

R. Gershoni-baruch, S. Ralston, K. Janssens, 2000, Nature Genetics.

Mutations in genes encoding the cadherin receptor-ligand pair DCHS1 and FAT4 disrupt cerebral cortical development

Sahar Mansour, Tim Morgan, Magdalena Götz, 2013, Nature Genetics.

Identification of the gene altered in Berardinelli–Seip congenital lipodystrophy on chromosome 11q13

J. Papp, E. Sobel, M. Lathrop, 2001, Nature Genetics.

Unraveling the genetic landscape of autosomal recessive Charcot-Marie-Tooth neuropathies using a homozygosity mapping approach

S. Züchner, B. Dan, P. van Damme, 2014, neurogenetics.

Further characterization of ATP 6 V 0 A 2-related autosomal recessive cutis laxa

S. Mundlos, H. Kayserili, M. Kabra, 2012 .

Further characterization of ATP6V0A2-related autosomal recessive cutis laxa

S. Mundlos, H. Kayserili, M. Kabra, 2012, Human Genetics.

Treatment outcome of creatine transporter deficiency: international retrospective cohort study

K. Õunap, D. Koeberl, A. Schulze, 2018, Metabolic brain disease.

Validation of a clinical practice-based algorithm for the diagnosis of autosomal recessive cerebellar ataxias based on NGS identified cases

N. Drouot, A. Durr, M. Koenig, 2016, Journal of Neurology.

Perturbed hematopoiesis in individuals with germline DNMT3A overgrowth Tatton-Brown-Rahman syndrome

M. Goodell, L. Brunetti, M. Carter, 2021, Haematologica.

Mutations in the RP2 gene cause disease in 10% of familial XLRP assessed in this study

Robert W. Taylor, M. Jay, S. Bhattacharya, 1999 .

A homozygous activating ATAD1 mutation impairs postsynaptic AMPA receptor trafficking 2 and causes a lethal encephalopathy with congenital stiffness

V. Dawson, A. Verloes, H. Houlden, 2018 .

Spatiotemporal expression in mouse brain of Kiaa2022, a gene disrupted in two patients with severe mental retardation.

J. Roux, L. Villard, L. Maldergem, 2009, Gene expression patterns : GEP.

Patients with lipodystrophic diabetes mellitus of the Seip-Berardinelli type, express normal insulin receptors

W. Kleijer, L. Maldergem, J. Maassen, 1993, Diabetologia.

Distress Type 1 (SMARD1) The Natural Course of Infantile Spinal Muscular Atrophy With Respiratory

M. Schuelke, P. Boffi, C. Hübner, 2011 .

Mutations in GRIN2A and GRIN2B encoding regulatory subunits of NMDA receptors cause variable neurodevelopmental phenotypes

H. Ropers, D. Wieczorek, F. Kortüm, 2010, Nature Genetics.

FBLN5-Related Cutis Laxa

B. Loeys, L. Maldergem, 2014 .

Loss-of-function mutations in ATP 6 V 0 A 2 impair vesicular trafficking , tropoelastin secretion and cell survival

Abuelo, Björn, J. Al-Aama, 2009 .

Baller-Gerold syndrome

L. Maldergem, 2011, Definitions.

An update on serine deficiency disorders

T. Coşkun, E. Brilstra, T. Koning, 2013, Journal of Inherited Metabolic Disease.

3-Phosphoglycerate dehydrogenase deficiency and 3-phosphoserine phosphatase deficiency: Inborn errors of serine biosynthesis

E. Schaftingen, H. Carchon, L. Maldergem, 1996, Journal of Inherited Metabolic Disease.

Congenital microcephaly and seizures due to 3-phosphoglycerate dehydrogenase deficiency: Outcome of treatment with amino acids

M. Durán, M. Pineda, L. Dorland, 2002, Journal of Inherited Metabolic Disease.

TBX5 Genetic Testing Validates Strict Clinical Criteria for Holt-Oram Syndrome

M. Brueckner, C. Basson, S. Aftimos, 2005, Pediatric Research.

Berardinelli-Seip congenital lipodystrophy

L. Maldergem, 2016 .

Congenital generalized lipodystrophy in an Indian patient with a novel mutation in BSCL2 gene

L. Maldergem, J. Magré, A. Maitra, 2008, Journal of Inherited Metabolic Disease.

Diagnostic Value of Immunostaining in Cultured Skin Fibroblasts from Patients with Oxidative Phosphorylation Defects

S. Seneca, D. Matthys, W. Lissens, 2006, Pediatric Research.

New insights into genotype–phenotype correlation for GLI3 mutations

A. Munnich, A. Mégarbané, A. Afenjar, 2014, European Journal of Human Genetics.

Further characterization of ATP6V0A2-related autosomal recessive cutis laxa

S. Mundlos, H. Kayserili, M. Kabra, 2012, Human Genetics.

The Marshall-smith syndrome

Y. Gillerot, L. Koulischer, L. Maldergem, 1990, European Journal of Pediatrics.

Severe neonatal hypotonia: high prevalence of Prader-Willi syndrome, myotonic dystrophy and spinal muscular atrophy in a molecular prospective study.

Y. Gillerot, L. Maldergem, P. Hilbert, 2000 .

Adverse cutaneous drug reactions in AIDS

L. Maldergem, M. Song, L. Raeve, 1988, The British journal of dermatology.

Syddansk Universitet Genetic Analysis of ' PAX 6-Negative ' Individuals with Aniridia or Gillespie Syndrome

Stephen, Anthony, I.., 2016 .

Clinical variability within a sibship with infantile Refsum disease

Y. Gillerot, R. Wanders, D. Balériaux, 1993 .

Neonatal seizures and severe hypotonia in a male infant suffering from a defect in peroxisomal β-oxidation

Y. Gillerot, R. Wanders, G. Mannaerts, 1992, Neuromuscular Disorders.

Genome-Wide Scan for Autism Susceptibility Genes

Christopher Gillberg, Maria Råstam, Marion Leboyer, 1999 .

Neural tube defects and omphalocele in trisomy 18

Y. Gillerot, L. Koulischer, L. Maldergem, 1989, Clinical genetics.

Mutations in the gene encoding immunoglobulin μ-binding protein 2 cause spinal muscular atrophy with respiratory distress type 1

T. Wienker, E. Bertini, A. Pfeufer, 2001, Nature Genetics.

Orthotopic liver transplantation from a living-related donor in an infant with a peroxisome biogenesis defect of the infantile Refsum disease type

A. Moser, R. Wanders, M. Vincent, 2005, Journal of Inherited Metabolic Disease.

Mutations in PYCR1 cause cutis laxa with progeroid features

Peter Nürnberg, Stefan Mundlos, Barry Merriman, 2009, Nature Genetics.

Peroxisomal localization of the immunoreactiveβ-oxidation enzymes in a neonate with aβ-oxidation defect

G. Dacremont, R. Wanders, T. Hashimoto, 2005, Virchows Archiv A.

Estimation of the Mutation Frequencies in Charcot-Marie-Tooth Disease Type 1 and Hereditary Neuropathy with Liability to Pressure Palsies: A European Collaborative Study

X. Estivill, E. Mariman, N. Archidiacono, 1996, European journal of human genetics : EJHG.

Growth disrupting mutations in epigenetic regulatory molecules are associated with abnormalities of epigenetic aging

D. Baralle, J. Mill, H. Cross, 2018, bioRxiv.

Increased risk for developmental delay in Saethre-Chotzen syndrome is associated with TWIST deletions: an improved strategy for TWIST mutation screening

E. Jabs, J. Mulliken, M. Cunningham, 2003, Human Genetics.

Pathogenesis of Human Malformations

Y. Gillerot, E. Jauniaux, L. Maldergem, 1992 .

Gain-of-function mutations in the phosphatidylserine synthase 1 (PTDSS1) gene cause Lenz-Majewski syndrome

M. Ryten, R. Scott, P. Beales, 2013, Nature Genetics.

Primary ciliary dyskinesia: a genome-wide linkage analysis reveals extensive locus heterogeneity

S. Antonarakis, M. Armengot, C. Gehrig, 1999, European Journal of Human Genetics.

Human TUBB3 Mutations Perturb Microtubule Dynamics, Kinesin Interactions, and Axon Guidance

T. Meitinger, Mohan L Gupta, D. Hunter, 2010, Cell.

Mutations in the gene encoding the human matrix Gla protein cause Keutel syndrome

P. Munroe, J. Fryns, L. Maldergem, 1999, Nature Genetics.

OFD1 mutations in males: phenotypic spectrum and ciliary basal body docking impairment

A. Munnich, N. Boddaert, R. Touraine, 2013, Clinical genetics.

Spastic paraplegia due to SPAST mutations is modified by the underlying mutation and sex

S. Tezenas du Montcel, C. Duyckaerts, A. Durr, 2018, Brain : a journal of neurology.

Autosomal recessive POLR1D mutation with decrease of TCOF1 mRNA is responsible for Treacher Collins syndrome

D. Wieczorek, M. Passos-Bueno, G. Nürnberg, 2014, Genetics in Medicine.

Biallelic pathogenic variants in the lanosterol synthase gene LSS involved in the cholesterol biosynthesis cause alopecia with intellectual disability, a rare recessive neuroectodermal syndrome

R. Redon, S. Küry, J. Thevenon, 2019, Genetics in Medicine.

Major decrease in the incidence of trisomy 21 at birth in south Belgium: mass impact of triple test?

Y. Gillerot, L. Koulischer, V. Dideberg, 2001, European Journal of Human Genetics.

UvA-DARE ( Digital Academic Repository ) FOXL 2 and BPES : Mutational hotspots , phenotypic variability , and revision of the genotype-phenotype correlation

K. Devriendt, B. Lorenz, R. Veitia, 2017 .

) FOXL 2 and BPES : Mutational hotspots , phenotypic variability , and revision of the genotype-phenotype correlation

K. Devriendt, B. Lorenz, R. Veitia, 2003 .

Genetics of the Berardinelli‐Seip syndrome (congenital generalized lipodystrophy) in Norway: epidemiology and gene mapping

B. Mevåg, B. Olaisen, M. Stenersen, 1996, Acta paediatrica (Oslo, Norway : 1992). Supplement.

Thiamine pyrophosphate: An essential cofactor for the α-oxidation in mammals – implications for thiamine deficiencies?

H. Mandel, B. Gelb, P. Veldhoven, 2006, Cellular and Molecular Life Sciences CMLS.

Impaired glycosylation and cutis laxa caused by mutations in the vesicular H+-ATPase subunit ATP6V0A2

Gert Matthijs, Dirk Lefeber, Peter Nürnberg, 2008, Nature Genetics.

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

P. Bergh, N. Verpoorten, V. Timmerman, 2004, Nature Genetics.

Echovirus Meningoencephalitis in X‐Linked Hypogammaglobulinemia

F. Mascart, E. Jauniaux, L. Maldergem, 1989, Acta paediatrica Scandinavica.

Comprehensive methylation analysis in typical and atypical PWS and AS patients with normal biparental chromosomes 15

B. Horsthemke, G. Gillessen‐kaesbach, L. Maldergem, 2001, European Journal of Human Genetics.

An Application of NGS for Molecular Investigations in Perrault Syndrome: Study of 14 Families and Review of the Literature

A. Munnich, F. Denoyelle, D. Lacombe, 2016, Human mutation.

Per rectal thallium scintigraphy for the assessment of portosystemic shunt: an experimental study in the bile duct ligated rats

L. Maldergem, H. Ham, A. Piepsz, 2004, European Journal of Nuclear Medicine.

Congenital cutis laxa with ligamentous laxity and delayed development, Dandy‐Walker malformation and minor heart and osseous defects

L. Maldergem, A. Biver, V. Toppet, 1994, Clinical genetics.

Vasopressin and gonadotropin deficiency in a boy with the ectrodactyly‐ectodermal dysplasia‐clefting syndrome

Y. Gillerot, P. Watillon, L. Maldergem, 1992, Acta paediatrica.

Primordial osteodysplastic dwarfism type I in association with corneal clouding: evidence for autosomal recessive inheritance

Y. Gillerot, L. Koulischer, L. Maldergem, 1990, Clinical genetics.

TCF12 microdeletion in a 72‐year‐old woman with intellectual disability

A. Wilkie, V. Rozé, A. Fenwick, 2015, American journal of medical genetics. Part A.

The GRIA3 c.2477G > A Variant Causes an Exaggerated Startle Reflex, Chorea, and Multifocal Myoclonus

J. Chelly, S. Traynelis, Hongjie Yuan, 2020, Movement disorders : official journal of the Movement Disorder Society.

Van Maldergem syndrome: further characterisation and evidence for neuronal migration abnormalities and autosomal recessive inheritance

S. Robertson, S. Mansour, R. Newbury-Ecob, 2012, European Journal of Human Genetics.

Mental retardation with blepharo‐naso‐facial abnormalities and hand malformations: a new syndrome?

Y. Gillerot, A. Verloes, L. Maldergem, 1992, Clinical genetics.

Multiple founder effects in spinal and bulbar muscular atrophy (SBMA, Kennedy disease) around the world

P. Andersen, C. Gellera, M. Savontaus, 2001, European Journal of Human Genetics.

Use of denaturing high performance liquid chromatography (DHPLC) for connexin 26 gene mutation screening.

Y. Gillerot, C. Kint, L. Maldergem, 1999 .

Unraveling the genetic landscape of autosomal recessive Charcot-Marie-Tooth neuropathies using a homozygosity mapping approach

S. Züchner, B. Dan, Y. Parman, 2014, neurogenetics.

Increased prostacyclin biosynthesis in a patient with homocystinuria

J. Boeynaems, L. Maldergem, P. Capel, 1990, European Journal of Pediatrics.

Trisomy 20q. A new case and further phenotypic delineation

A. Verloes, L. Maldergem, C. Herens, 1990, Clinical genetics.

Treatment outcome of creatine transporter deficiency: international retrospective cohort study

K. Õunap, D. Koeberl, A. Schulze, 2018, Metabolic Brain Disease.

Identification of three novel SEDL mutations, including mutation in the rare, non‐canonical splice site of exon 4

M. Shaw, J. Gécz, N. Brunetti‐Pierri, 2003, Clinical genetics.

X-exome sequencing of 405 unresolved families identifies seven novel intellectual disability genes

K. Friend, M. Shaw, E. Haan, 2015, Molecular Psychiatry.

Spectrum of FOXL2 gene mutations in blepharophimosis-ptosis-epicanthus inversus (BPES) families demonstrates a genotype--phenotype correlation.

K. Devriendt, G. Mortier, E. Jabs, 2001, Human molecular genetics.

Lethal short-rib with median cleft and without polydactyly: A fourth case

Y. Gillerot, L. Koulischer, A. Verloes, 2005, Pediatric Radiology.

IRF6 Screening of Syndromic and a priori Non-Syndromic Cleft Lip and Palate Patients: Identification of a New Type of Minor VWS Sign

K. Devriendt, G. Mortier, Y. Gillerot, 2010, Molecular Syndromology.

The spectrum of pathogenic mutations in SPINK5 in 19 families with Netherton syndrome: implications for mutation detection and first case of prenatal diagnosis.

R. Silverman, S. Bale, J. Uitto, 2001, The Journal of investigative dermatology.

Revisiting the craniosynostosis-radial ray hypoplasia association: Baller-Gerold syndrome caused by mutations in the RECQL4 gene

E. Jabs, Y. Gillerot, E. Chouery, 2005, Journal of Medical Genetics.

Sporadic imprinting defects in Prader-Willi syndrome and Angelman syndrome: implications for imprint-switch models, genetic counseling, and prenatal diagnosis.

M. Nöthen, H. Smeets, A. V. D. van den Ouweland, 1998, American journal of human genetics.

Disruption of the ATXN1–CIC complex causes a spectrum of neurobehavioral phenotypes in mice and humans

Maxime W. C. Rousseaux, H. Zoghbi, Zhandong Liu, 2017, Nature Genetics.

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

C. van Broeckhoven, J. Martín, V. Timmerman, 1999, Brain : a journal of neurology.

Genotype-phenotype relationships in Berardinelli-Seip congenital lipodystrophy

S. O’Rahilly, M. Lathrop, A. Mégarbané, 2002, Journal of medical genetics.

Funtional characterization of four novel MAN2B1 mutations causing juvenile onset alpha-mannosidosis.

T. Beccari, P. Heikinheimo, B. Bembi, 2007, Clinica chimica acta; international journal of clinical chemistry.

Camurati-Engelmann disease: review of the clinical, radiological, and molecular data of 24 families and implications for diagnosis and treatment

S. Wientroub, S. Ralston, K. Janssens, 2005, Journal of Medical Genetics.

Cobblestone-like brain dysgenesis and altered glycosylation in congenital cutis laxa, Debré type

S. Mundlos, H. Kayserili, W. Dobyns, 2008, Neurology.

Mutations in the RP2 gene cause disease in 10% of families with familial X-linked retinitis pigmentosa assessed in this study.

A. Bird, M. Jay, S. Bhattacharya, 1999, American journal of human genetics.

Association of cleft palate with Sprengel anomaly: confirmation of the Hodgson-Chiu syndrome.

A. Monier, L. Maldergem, L. Van Maldergem, 2000, American journal of medical genetics.

Positional cloning of a novel gene on chromosome 16q causing Bardet-Biedl syndrome (BBS2).

V. Sheffield, S. Jacobson, A. Fulton, 2001, Human molecular genetics.

Camurati-Engelmann Disease : review of the clinical , radiological and molecular data of 24 families and implications towards diagnostics and treatment

S. Wientroub, S. Ralston, K. Janssens, 2005 .

Paternal origin of FGFR2 mutations in sporadic cases of Crouzon syndrome and Pfeiffer syndrome.

Rivka L. Glaser, E. Jabs, A. Wilkie, 2000, American journal of human genetics.

UvA-DARE ( Digital Academic Repository ) FOXL 2 and BPES : Mutational hotspots , phenotypic variability , and revision of the genotype-phenotype correlation

K. Devriendt, B. Lorenz, R. Veitia, 2017 .

Arterial tortuosity syndrome: case report.

P. Coucke, L. Maldergem, L. Van Maldergem, 2012, Genetic counseling.

ATP6V0A2-Related Cutis Laxa

W. Dobyns, U. Kornak, L. Maldergem, 2015 .

Hypomyelination and reversible white matter attenuation in 3-phosphoglycerate dehydrogenase deficiency.

M. Knaap, B. Poll-The, M. Pineda, 2000, Neuropediatrics.

Exome sequencing in Brown-Vialetto-van Laere syndrome.

Janel O. Johnson, A. Singleton, J. R. Gibbs, 2010, American journal of human genetics.

Mutations in the DNA methyltransferase gene, DNMT3A, cause an overgrowth syndrome with intellectual disability

Katrina Tatton-Brown, Nazneen Rahman, Elise Ruark, 2014, Nature Genetics.

Molecular characterization of 3-phosphoglycerate dehydrogenase deficiency--a neurometabolic disorder associated with reduced L-serine biosynthesis.

R Berger, M. Durán, M. Pineda, 2000, American journal of human genetics.

FLNC pathogenic variants in patients with cardiomyopathies: Prevalence and genotype-phenotype correlations

F. Ader, P. Groote, P. Réant, 2020, Archives of Cardiovascular Diseases Supplements.

Disruption of a new X linked gene highly expressed in brain in a family with two mentally retarded males

J. Gécz, C. Schwartz, M. Mattei, 2004, Journal of Medical Genetics.

Growth disrupting mutations in epigenetic regulatory molecules are associated with abnormalities of epigenetic aging

D. Baralle, J. Mill, H. Cross, 2018, bioRxiv.

Genetic assessment and folate receptor autoantibodies in infantile-onset cerebral folate deficiency (CFD) syndrome.

V. Ramaekers, J. M. Sequeira, E. Quadros, 2018, Molecular genetics and metabolism.