G. Pierquin

发表

Fifteen years of research on oral–facial–digital syndromes: from 1 to 16 causal genes

Colin A. Johnson, M. Huynen, D. Birnbaum, 2017, Journal of Medical Genetics.

Rapid prenatal diagnosis of fetal Zellweger syndrome by biochemical tests, complementation studies, and molecular analyses

S. Ferdinandusse, H. Waterham, R. Wanders, 2013, Prenatal diagnosis.

Spinocerebellar ataxia type 2 (SCA2): clinical features and genetic analysis.

V. Bours, L. Mutesa, K. Segers, 2008, Journal of tropical pediatrics.

Spinocerebellar Ataxia Type 2 ( SCA 2 ) : Clinical Features and Genetic Analysis

L. Mutesa, K. Segers, G. Pierquin, 2008 .

Hemiplegic Migraine Presenting with Prolonged Somnolence: A Case Report

S. Beyenburg, G. Pierquin, C. Saleh, 2016, Case Reports in Neurology.

SALL1 mutation analysis in Townes‐Brocks syndrome: twelve novel mutations and expansion of the phenotype

A. Green, J. Mcgaughran, M. Whiteford, 2005, Human mutation.

Autosomal recessive primary microcephaly due to ASPM mutations: An update

K. Devriendt, C. Woods, P. Gressens, 2018, Human mutation.

Kinetochore KMN network gene CASC5 mutated in primary microcephaly.

Nelle Lambert, M. Abramowicz, I. Pirson, 2012, Human molecular genetics.

Diagnostic strategy in segmentation defect of the vertebrae: a retrospective study of 73 patients

S. Julia, J. Rivière, A. Verloes, 2018, Journal of Medical Genetics.

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.

Germline PTPN11 missense mutation in a case of Noonan syndrome associated with mediastinal and retroperitoneal neuroblastic tumors.

V. Bours, N. Janin, L. Mutesa, 2008, Cancer genetics and cytogenetics.

E. Vámos, M. Foerster, C. Fourneau, 1991, Human Genetics.

Mosaicism of 46,XX/47,XX,+9/47,XX,+?mar in the same amniotic fluid with apparent loss of one cell line after delivery

A. Verloes, G. Pierquin, J. Schaaps, 1989, Prenatal diagnosis.

Diaphragmatic hernia and Fryns syndrome phenotype in partial trisomy 22.

C. de Beaufort, G. Pierquin, F. Schneider, 2000, Genetic counseling.

FOXL2 copy number changes in the molecular pathogenesis of BPES: unique cohort of 17 deletions

A. Shelling, W. Reardon, R. Veitia, 2010, Human mutation.

Severe Smith-Lemli-Opitz syndrome with prolonged survival and lipid abnormalities.

J. Brucher, A. Honda, E. Vámos, 1995, American journal of medical genetics.

Treacher Collins syndrome: a clinical and molecular study based on a large series of patients

J. Laplanche, S. Julia, A. Toutain, 2015, Genetics in Medicine.

Autosomal recessive variations of TBX6, from congenital scoliosis to spondylocostal dysostosis

J. Rivière, A. Verloes, J. Thevenon, 2017, Clinical genetics.

Dandy-Walker malformation with postaxial polydactyly: a new syndrome?

N. van Regemorter, G. Pierquin, T. Masson, 1989, American journal of medical genetics.

Molecular analysis in two siblings African patients with severe form of Hunter Syndrome: identification of a novel (p.Y54X) nonsense mutation.

V. Bours, W. Lissens, L. Mutesa, 2007, Journal of tropical pediatrics.

Clinical, cytogenetic and molecular characterization of two cases of mosaic ring chromosome 13.

V. Bours, A. Hellin, J. Caberg, 2013, Genetic counseling.

Biallelic B3GALT6 mutations cause spondylodysplastic Ehlers‐Danlos syndrome

R. Pfundt, S. Nampoothiri, A. Kariminejad, 2018, Human molecular genetics.

A new 48, XXYY/47, XYY syndrome associated with multiple skeletal abnormalities, congenital heart disease and mental retardation

V. Bours, A. Hellin, L. Mutesa, 2012, Indian journal of human genetics.

Partial trisomy 20q due to paternal t(8;20) translocation: Case report and review of the literature

G. Pierquin, J. Fryns, C. Herens, 1988, Clinical genetics.

A new case of acro-renal-ocular (radio-renal-ocular) syndrome with cleft palate and costo-vertebral defects? A brief clinical report.

G. Pierquin, N. Regemorter, M. Hall, 1991, Ophthalmic paediatrics and genetics.

Kinetochore KMN network gene CASC5 mutated in primary microcephaly.

Nelle Lambert, M. Abramowicz, I. Pirson, 2012, Human Molecular Genetics.