N. van Regemorter

发表

A comprehensive survey of mutations in the OPA1 gene in patients with autosomal dominant optic atrophy.

T. Rosenberg, S. Bhattacharya, H. Eiberg, 2002, Investigative ophthalmology & visual science.

[Major alpha-thalassemia: antenatal diagnosis, case report and literature review].

H. Saadi, N. van Regemorter, B. Gulbis, 2009, Journal de gynecologie, obstetrique et biologie de la reproduction.

Chemical chaperone treatment reduces intracellular accumulation of mutant collagen IV and ameliorates the cellular phenotype of a COL4A2 mutation that causes haemorrhagic stroke

K. Kadler, M. Abramowicz, N. van Regemorter, 2013, Human molecular genetics.

Three new PAX6 mutations including one causing an unusual ophthalmic phenotype associated with neurodevelopmental abnormalities

D. Schorderet, K. Bigot, A. Penfornis, 2007, Molecular vision.

Neuroimaging fails to identify asymptomatic carriers of familial porencephaly.

A. Verloes, P. David, P. van Bogaert, 2002, American journal of medical genetics.

Measurements of fetal kidney growth on ultrasound.

M. Dramaix-Wilmet, P. Jeanty, N. van Regemorter, 1982, Radiology.

Charcot-Marie-Tooth disease associated with retinal pigment dystrophy and protanopia. Neurological, ophthalmological and genetic study of a family.

N. van Regemorter, D. Toussaint, C. Coërs, 1979, Journal of neurology.

Congenital malformations in 10,000 consecutive births in a university hospital: need for genetic counseling and prenatal diagnosis.

J. Dodion, E. Vámos, N. van Regemorter, 1984, The Journal of pediatrics.

Gray matter heterotopia and acute necrotizing encephalopathy in trichothiodystrophy.

M. Abramowicz, P. van Bogaert, H. Szliwowski, 1998, Pediatric neurology.

Lethal course of X-linked dominant chondrodysplasia punctata in a male newborn.

N. van Regemorter, L. D. De Raeve, M. Song, 1989, Dermatologica.

A case of partial sirenomelia and possible vitamin A teratogenesis

N. van Regemorter, F. Rodesch, J. Amy, 1985, Prenatal diagnosis.

Lethal multiple pterygium syndrome.

Y. Englert, N. van Regemorter, S. Alexander, 1984, American journal of medical genetics.

Genetic Screening of LCA in Belgium: Predominance of CEP290 and Identification of Potential Modifier Alleles in AHI1 of CEP290-related Phenotypes

T. de Ravel, H. Van Esch, I. Casteels, 2010, Human mutation.

Cordocentesis for rapid karyotype: 421 consecutive cases.

F. Avni, E. Vámos, N. van Regemorter, 1995, Fetal diagnosis and therapy.

Borate transporter SLC4A11 mutations cause both Harboyan syndrome and non-syndromic corneal endothelial dystrophy

M. Abramowicz, K. David, F. Meire, 2007, Journal of Medical Genetics.

Biochemical Diagnosis of a Fatal Case of Günther’s Disease in a Newborn with Hydrops Foetalis

H. de Verneuil, V. Da Silva, Y. Nordmann, 1993, European journal of clinical chemistry and clinical biochemistry : journal of the Forum of European Clinical Chemistry Societies.

Alphafetoprotein (AFP), concanavalin A non-reactive AFP and specific acetylcholinesterase in amniotic fluid from pathological pregnancies. Predictive values for open spina bifida.

D. Delbeke, E. Vámos, N. van Regemorter, 1983, European journal of obstetrics, gynecology, and reproductive biology.

Value of glial fibrillary acidic protein determination in amniotic fluid for prenatal diagnosis of neural tube defects.

E. Vámos, M. Noppe, A. Lowenthal, 1987, Clinica chimica acta; international journal of clinical chemistry.

Prenatal diagnosis and fetal pathology of partial trisomy 20p–monosomy 4p resulting from paternal translocation

E. Vámos, N. van Regemorter, J. Flament-Durand, 1985, Prenatal Diagnosis.

S‐100 protein in amniotic fluid of anencephalic fetuses

N. van Regemorter, C. Sindic, P. Masson, 1984, Prenatal diagnosis.

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

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

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.

Lethal osteopetrosis with multiple fractures in utero.

E. Vámos, N. van Regemorter, D. Faverly, 1986, American journal of medical genetics.

Sporadic in utero generalized edema caused by mutations in the lymphangiogenic genes VEGFR3 and FOXC2.

E. Haan, Y. Gillerot, M. Vikkula, 2009, The 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.

A new neurological syndrome with mental retardation, choreoathetosis, and abnormal behavior maps to chromosome Xp11.

R. Kooy, E. Fransen, P. van Bogaert, 1999, American journal of human genetics.

Delineation of two distinct 6p deletion syndromes

G. Mirza, J. Ragoussis, F. Speleman, 1999, Human Genetics.

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

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

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

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

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.

A novel mutation in the ELOVL4 gene causes autosomal dominant Stargardt-like macular dystrophy.

F. Cremers, C. Hoyng, Zhenglin Yang, 2004, Investigative ophthalmology & visual science.

Fetal ocular biometry by ultrasound.

P Jeanty, M. Dramaix-Wilmet, P. Jeanty, 1982, Radiology.

[Collection of fetal cord blood for karyotyping].

F. Avni, E. Vámos, N. van Regemorter, 1992, Journal de gynecologie, obstetrique et biologie de la reproduction.

Identification of 34 novel and 56 known FOXL2 mutations in patients with blepharophimosis syndrome

T. de Ravel, R. Hennekam, J. Clayton-Smith, 2008, Human mutation.

TMEM126A mutation in a Moroccan family with autosomal recessive optic atrophy

M. Abramowicz, F. Coppieters, N. van Regemorter, 2012, Molecular vision.

The importance of determining the mode of inheritance for the estimation of recurrence risks.

N. van Regemorter, C. Smith, 1976, Journal de genetique humaine.

Novel human pathological mutations. Gene symbol: KRIT1. Disease: cerebral cavernous malformation.

W. van Paesschen, K. Heimdal, Y. Gillerot, 2007, Human genetics.

Novel human pathological mutations. Gene symbol: KRIT1. Disease: cerebral cavernous malformation.

W. van Paesschen, K. Heimdal, Y. Gillerot, 2007, Human genetics.

[Medical genetics service].

J. Parma, M. Abramowicz, G. Vassart, 2002, Revue medicale de Bruxelles.

Prenatal diagnosis and fetal pathology of partial trisomy 20p–monosomy 4p resulting from paternal translocation

E. Vámos, N. van Regemorter, J. Flament-Durand, 1985, Prenatal Diagnosis.

Substitution of glycine-661 by serine in the alpha1(I) and alpha2(I) chains of type I collagen results in different clinical and biochemical phenotypes.

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