E. Vamos

发表

Assessment of an electron-impact GC-MS method for organic acids and glycine conjugates in amniotic fluid

M. Abramowicz, P. Duez, Yves Léonce Mardens, 2004, Journal of Inherited Metabolic Disease.

Identification of C7orf11 (TTDN1) gene mutations and genetic heterogeneity in nonphotosensitive trichothiodystrophy.

J. R. MacDonald, S. Scherer, J. Beckmann, 2005, American journal of human genetics.

Characterization of Deletions of the HBA and HBB Loci by Array Comparative Genomic Hybridization.

M. Bender, A. Kentsis, V. Sankaran, 2016, The Journal of molecular diagnostics : JMD.

Feingold syndrome: report of a new family and review.

A. Verloes, F. Verbelen, E. Vamos, 1997, American journal of medical genetics.

Congenital absence of insulin cells in a neonate with diabetes mellitus and mutase-deficient methylmalonic acidaemia

L. Bouwens, G. Klöppel, H. Dorchy, 1993, Diabetologia.

Pyruvate dehydrogenase (PDH) deficiency caused by a 21-base pair insertion mutation in the Elα subunit

W. Lissens, I. Liebaers, E. Vamos, 1992, Human Genetics.

Frequent deletion of chromosome 19 and a rare rearrangement of 19p13.3 involving the insulin receptor gene in human ovarian cancer.

B. Neyns, W. Lissens, E. Teugels, 1995, Oncogene.

Interstitial deletion 2q33.3-q34 in a boy with a phenotype resembling the Seckel syndrome.

F. Speleman, L. Messiaen, N. Van Roy, 1997, American journal of medical genetics.

Isodisomy of chromosome 6 in a newborn with methylmalonic acidemia and agenesis of pancreatic beta cells causing diabetes mellitus.

M. Andrien, E. Dupont, J. Parma, 1994, The Journal of clinical investigation.

Trichothiodystrophy, mental retardation, short stature, ataxia, and gonadal dysfunction in three Moroccan siblings.

S. Goldman, S. Przedborski, R. Pollitt, 1990, American journal of medical genetics.

C heterochromatin variation in couples with recurrent early abortions.

M. Kirsch‐Volders, L. Hens, C. Staessen, 1983, Journal of medical genetics.

Moebius syndrome in an infant exposed in utero to benzodiazepines.

P. Vergauwen, E. Vamos, W. Courtens, 1992, The Journal of pediatrics.

Oculocerebral Hypopigmentation Syndrome (Cross Syndrome) in a Gipsy Child

W. Broeckx, E. Vamos, W. Courtens, 1989, Acta paediatrica Scandinavica.

Unilateral bowing of long bones and multiple congenital anomalies in a child born to a mother with gestational diabetes.

G. Mortier, E. Vamos, W. Courtens, 2000, Annales de genetique.

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

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

Further evidence for autosomal dominant inheritance and ectodermal abnormalities in Kabuki syndrome.

E. Vámos, E. Vamos, W. Courtens, 2000, American journal of medical genetics.

Acrocallosal syndrome in an Algerian boy born to consanguineous parents: review of the literature and further delineation of the syndrome.

C. Christophe, A. Schinzel, E. Vamos, 1997, American journal of medical genetics.

Noonan-like phenotype in monozygotic twins with a duplication-deficiency of the long arm of chromosome 18 resulting from a maternal paracentric inversion

A. Jauch, F. Speleman, J. Vermeesch, 1998, Human Genetics.

Delineation of two distinct 6p deletion syndromes

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

Fanconi's anaemia. Simultaneous onset in 2 siblings and unusual cytological findings.

W. Feremans, P. Fondu, E. Vamos, 2009, Scandinavian journal of haematology.

Growth failure, encephalopathy, and endocrine dysfunctions in two siblings, one with 5-oxoprolinase deficiency

A. Larsson, L. Grillner, Yves Léonce Mardens, 1997, European Journal of Pediatrics.

Prenatal diagnosis of a constitutional interstitial deletion of chromosome 5 (q15q31.1) presenting with features of congenital contractural arachnodactyly.

J. Martín, L. Messiaen, E. Vamos, 1998, American journal of medical genetics.

Pernicious anaemia and hypoparathyroidism in a patient with Kearns-Sayre syndrome with mitochondrial DNA duplication

M. Abramowicz, E. Vamos, P. Cochaux, 1996, Journal of Inherited Metabolic Disease.

Truncation of the CNS-expressed JNK3 in a patient with a severe developmental epileptic encephalopathy

B. Dan, H. Ropers, V. Kalscheuer, 2005, Human Genetics.

Infantile form of sialic acid storage disorder: Clinical, ultrastructural, and biochemical studies in two siblings

G. Strecker, G. Thomas, E. Vamos, 1982, European Journal of Pediatrics.

A mitochondrial DNA microdeletion in a newborn girl with transient lactic acidosis

S. Seneca, M. Abramowicz, W. Lissens, 1996, Journal of Inherited Metabolic Disease.

Deletion of chromosome 11p13-11p15.5 sequences in invasive human ovarian cancer is a subclonal progression factor.

W. Lissens, J. De Grève, C. Bourgain, 1992, Cancer research.

Carnitine deficiency with cardiomyopathy presenting as neonatal hydrops: Successful response to carnitine therapy

F. Vertongen, E. Vamos, A. Clercx, 1990, Journal of Inherited Metabolic Disease.

Hereditary intestinal neurofibromatosis. II. Translocation between chromosomes 12 and 14.

F. Hecht, J. Verschraegen, R. Heimann, 1988, Neurofibromatosis.

In-utero carbon monoxide poisoning and multiple fetal abnormalities

M. Steppe, E. Vamos, D. Blum, 1993, The Lancet.

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

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

Benzodiazepine use during pregnancy: a prospective study.

D. Willems, E. Vamos, W. Courtens, 1995, European Journal of Obstetrics, Gynecology, and Reproductive Biology.

Alveolar soft‐part sarcoma: Further evidence by FISH for the involvement of chromosome band 17q25

E. Vámos, E. Sariban, P. Heimann, 1998, Genes, chromosomes & cancer.

Severe congenital cutis laxa with pulmonary emphysema: a family with three affected sibs.

I. Liebaers, G. Vandevelde, L. Van Maldergem, 1988, American journal of medical genetics.

A probable case of Wiedemann-Rautenstrauch syndrome or neonatal progeroid syndrome and review of the literature.

L. Nuytinck, E. Vamos, W. Courtens, 1997, Clinical dysmorphology.

[Medical genetics service].

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

Leukemia in a trisomy 21 mosaic: specific involvement of the trisomic cells.

E. Vamos, A. Verhest, A. Ferster, 1986, Cancer genetics and cytogenetics.

Pyruvate dehydrogenase deficiency due to a mutation of the E1 α subunit

W. Lissens, I. Liebaers, E. Vamos, 1991, Journal of Inherited Metabolic Disease.

Cholesteryl ester storage disease with secondary lecithin cholesterol acyl transferase deficiency

F. Vertongen, E. Vamos, D. Gnat, 1988, Journal of Inherited Metabolic Disease.

Cutaneous porphyria in a neonate with tyrosinaemia type 1

S. Vanden Eijnden, E. Vamos, A. Clercx, 2000, European Journal of Pediatrics.

Fatal cytochromec oxidase-deficient myopathy of infancy associated with mtDNA depletion. Differential involvement of skeletal muscle and cultured fibroblasts

S. Dimauro, D. Biarent, E. Vamos, 1992, Journal of Inherited Metabolic Disease.