N. Regemorter

发表

A human homologue of the Drosophila eyes absent gene underlies Branchio-Oto-Renal (BOR) syndrome and identifies a novel gene family

J. Weissenbach, M. Bitner-Glindzicz, R. Heilig, 1997, Nature Genetics.

Familial ectrodactyly and polydactyly: variable expressivity of one single gene ‐ embryological considerations

J. Ramet, J. Milaire, F. Rodesch, 1982, Clinical genetics.

On an autosomal dominant form of retinal-cerebellar degeneration: an autopsy study of five patients in one family

C. Broeckhoven, J. Martín, J. Brucher, 2004, Acta Neuropathologica.

Pathological Pregnancies: Results of amniotic fluid studies and fetal outcome

F. Avni, I. Liebaers, E. Vámos, 1986, Acta obstetricia et gynecologica Scandinavica.

A detailed investigation of two cases exhibiting characteristics of the 6p deletion syndrome

J. Ragoussis, A. Davies, F. Flinter, 1996, Human Genetics.

Two unrelated children with partial trisomy 1q and monosomy 6p, presenting with the phenotype of the Larsen syndrome

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

Mutation Update of the CLCN5 Gene Responsible for Dent Disease 1

K. Dahan, P. Houillier, X. Jeunemaître, 2015, Human mutation.

Spinocerebellar ataxia type 7 (SCA7) – correlations between phenotype and genotype in one large Belgian family

C. Broeckhoven, J. Del-Favero, Jean-Jacques Martin, 1999, Journal of the Neurological Sciences.

Charcot-Marie-Tooth disease associated with retinal pigment dystrophy and protanopia

D. Toussaint, C. Coërs, N. Regemorter, 2004, Journal of Neurology.

Refinement of the locus for autosomal dominant cerebellar ataxia type II to chromosome 3p21.1–14.1

C. Broeckhoven, A. Dürr, A. Brice, 1997, Human Genetics.

The gene for autosomal dominant cerebellar ataxia with pigmentary macular dystrophy maps to chromosome 3p12–p21.1

J. Weissenbach, Y. Agid, C. Broeckhoven, 1995, Nature Genetics.

A D255H substitution in the arylsulphatase A gene of two unrelated Belgian patients with late-infantile metachromatic leukodystrophy

S. Seneca, R. Vervoort, W. Lissens, 1996, Journal of Inherited Metabolic Disease.

Substitution of glycine-661 by serine in the α1(I) and α2(1) chains of type I collagen results in different clinical and biochemical phenotypes

R. Dalgleish, A. Paepe, L. Nuytinck, 1996, Human Genetics.

Should determination of the karyotype be systematic for all malformations detected by obstetrical ultrasound?

V. De Maertelaer, F. Avni, V. Maertelaer, 2005, Prenatal diagnosis.

Partial trisomy 3p in two siblings: Clinical and pathological findings

Y. Gillerot, E. Vámos, J. Flament-Durand, 1983, European Journal of Pediatrics.

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.

Contribution of three‐dimensional computed tomography in the assessment of fetal skeletal dysplasia

F. Avni, N. van Regemorter, M. Cassart, 2007, Ultrasound in obstetrics & gynecology : the official journal of the International Society of Ultrasound in Obstetrics and Gynecology.

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.

Holt Oram syndrome mistaken for thalidomide embryopathy-embryological considerations

M. Rooze, J. Dodion, P. Jeanty, 1982, European Journal of Pediatrics.

Proximal deletion of chromosome 21 confirmed by in situ hybridization and molecular studies.

F. Speleman, N. Van Roy, N. van Regemorter, 1994, American journal of medical genetics.