M. Holvoet

发表

Dicentric chromosome 9 due to tandem duplication of the 9p11-q13 region: unusual chromosome 9 variant.

K. Devriendt, J. Fryns, T. Lukusa, 2000, American journal of medical genetics.

Facial dysmorphism is influenced by ethnic background of the patient and of the evaluator

H. Peeters, T. de Ravel, K. Devriendt, 2016, Clinical genetics.

Bilateral renal tumors in an adult man with Smith-Magenis syndrome: The role of the FLCN gene.

K. Devriendt, P. Verleyen, M. Holvoet, 2016, European journal of medical genetics.

ARX mutation in a boy with transsphenoidal encephalocele and hypopituitarism

K. Devriendt, J. Chelly, H. Esch, 2004, Clinical genetics.

Atypical presentation of the Prader-Willi syndrome. Mosaic trisomy 15?

K. Devriendt, J. Fryns, M. Descheemaeker, 2002, Annales de genetique.

Recurrent de novo mutations in PACS1 cause defective cranial-neural-crest migration and define a recognizable intellectual-disability syndrome.

L. Vissers, J. Schuurs-Hoeijmakers, B. D. de Vries, 2012, American journal of human genetics.

The mitochondrial solute carrier SLC25A5 at Xq24 is a novel candidate gene for non-syndromic intellectual disability

J. Rosenfeld, P. Marynen, K. Devriendt, 2013, Human Genetics.

A microduplication of CBP in a patient with mental retardation and a congenital heart defect

K. Devriendt, J. Vermeesch, B. Thienpont, 2007, American journal of medical genetics. Part A.

Increased STAG2 dosage defines a novel cohesinopathy with intellectual disability and behavioral problems.

J. Rosenfeld, B. V. van Bon, K. Friend, 2015, Human molecular genetics.

Homozygous missense STRADA mutation in a patient with polyhydramnios, megalencephaly and symptomatic epilepsy syndrome.

K. Devriendt, L. de Waele, M. Holvoet, 2021, Clinical dysmorphology.

Identification of Intellectual Disability Genes in Female Patients with a Skewed X‐Inactivation Pattern

J. Lupski, R. Gibbs, D. Muzny, 2016, Human mutation.

Triplication of distal chromosome 10q

K. Devriendt, J. Fryns, G. Matthijs, 1999, Journal of medical genetics.

A clinical, cytogenetic and familial study of 307 mentally retarded, institutionalized, adult male patients with special interest for fra(X) negative X‐linked mental retardation

J. Fryns, H. Berghe, M. Holvoet, 1991, Clinical genetics.

Further delineation of the phenotype of chromosome 14q13 deletions: (positional) involvement of FOXG1 appears the main determinant of phenotype severity, with no evidence for a holoprosencephaly locus

K. Devriendt, M. Polak, A. Haeringen, 2012, Journal of Medical Genetics.

Deletion 2q37.3 and autism: molecular cytogenetic mapping of the candidate region for autistic disorder.

K. Devriendt, J. Vermeesch, J. Fryns, 2004, Genetic counseling.

Prader-Willi syndrome.

P. Marynen, K. Devriendt, J. Vermeesch, 1998, The American journal of psychiatry.

A recognisable behavioural phenotype associated with terminal deletions of the short arm of chromosome 8.

P. Adriaensens, K. Devriendt, B. Eyskens, 1997, American journal of medical genetics.

Severe mental retardation ‐ distal arthrogryposis in the upper limbs and complex chromosomal rearrangements resulting from a lOq25→qter deletion

K. Devriendt, T. Lukusa, M. Holvoet, 1998, Clinical genetics.

Cri du chat syndrome: changing phenotype in older patients.

J. Fryns, G. Buggenhout, B. Hamel, 2000, American journal of medical genetics.

Partial DiGeorge syndrome in two patients with a 10p rearrangement

P. Scambler, K. Devriendt, H. Van Esch, 1999, Clinical genetics.

Regional localization of two genes for nonspecific X-linked mental retardation to Xp22.3-p22.2 (MRX49) and Xp11.3-p11.21 (MRX50).

K. Devriendt, S. Claes, J. Fryns, 1997, American journal of medical genetics.

Genotype-phenotype correlations of UBA2 mutations in patients with ectrodactyly.

K. Devriendt, J. Vermeesch, M. Bauters, 2020, European journal of medical genetics.

SPG20 mutation in three siblings with familial hereditary spastic paraplegia

Erika Souche, K. Devriendt, V. Racé, 2017, Cold Spring Harbor molecular case studies.

8p21.3 deletions are rare causes of non-syndromic autism spectrum disorder

H. Peeters, K. Devriendt, I. Noens, 2021, neurogenetics.

Further delineation of the KBG syndrome.

K. Devriendt, J. Fryns, M. Holvoet, 1998, Genetic counseling.

Partial monosomy 11q and trisomy 12q: variable expression in two siblings.

K. Devriendt, J. Vermeesch, J. Fryns, 2003, Genetic counseling.

Cryptic translocation t(5;18) in familial mental retardation.

P. Marynen, K. Devriendt, J. Vermeesch, 2000, Annales de genetique.

The mitochondrial solute carrier SLC25A5 at Xq24 is a novel candidate gene for non-syndromic intellectual disability

J. Rosenfeld, P. Marynen, K. Devriendt, 2013, Human Genetics.

De novo and inherited mutations in the X-linked gene CLCN4 are associated with syndromic intellectual disability and behavior and seizure disorders in males and females

J. Rosenfeld, M. Shaw, E. Haan, 2016, Molecular Psychiatry.

Glypican 1 gene: good candidate for brachydactyly type E.

K. Devriendt, J. Fryns, M. Syrrou, 2002, American journal of medical genetics.

Idiopathic multicentric osteolysis presents early and is not linked to chromosome 18q21.1

T. de Ravel, C. Wouters, J. Fryns, 2000, Journal of medical genetics.

HUWE1 mutation explains phenotypic severity in a case of familial idiopathic intellectual disability.

K. Devriendt, H. Van Esch, V. Kalscheuer, 2013, European journal of medical genetics.

X-linked mental retardation, short stature, microcephaly and hypogonadism maps to Xp22.1-p21.3 in a Belgian family

K. Devriendt, J. Fryns, J. Chelly, 2005 .

X-linked mental retardation, short stature, microcephaly and hypogonadism maps to Xp22.1-p21.3 in a Belgian family.

K. Devriendt, H. Van Esch, J. Fryns, 2004, European journal of medical genetics.

Follow-up of an adult with Keutel syndrome.

K. Devriendt, J. Fryns, M. Holvoet, 1999, American journal of medical genetics.

Regional localization of a gene for nonspecific XLMR to Xp11.3-p11. 23 (MRX51) and tentative localization of an MRX gene to Xq23-q26.1.

K. Devriendt, S. Claes, J. Fryns, 1999, American journal of medical genetics.

Physical map of a 1.5 Mb region on 12p11.2 harbouring a synpolydactyly associated chromosomal breakpoint

G. Fabry, F. Goodman, P. Debeer, 2000, European Journal of Human Genetics.

The Haspeslagh syndrome (MIM 177980) is caused by an unbalanced reciprocal 6q/9p translocation

K. Devriendt, J. Fryns, M. Holvoet, 2000, Clinical genetics.