E. Mariman

发表

The MAS proto-oncogene is not imprinted in humans.

H. Ropers, V. Kalscheuer, M. Schepens, 1996, Genomics.

Cosegregation of missense mutations of the luteinizing hormone receptor gene with familial male-limited precocious puberty.

H. Kremer, H. Ropers, J. Wit, 1993, Human molecular genetics.

patients with Cowden d isease

M. Nelen, H. Kremer, J. Fryns, 1997 .

Rubinstein-Taybi Syndrome Caused by Submicroscopic Deletions within 16p 1 3.3

H. Himmelbauer, R. Hennekam, Y. Kuroki, 2006 .

Microdeletions of the Y chromosome and intracytoplasmic sperm injection: from gene to clinic.

L. Hoefsloot, D. Smeets, J. Kremer, 1997, Human reproduction.

Identification of two PAX3 mutations causing waardenburg syndrome, one within the paired domain (M62V) and the other downstream of the homeodomain (Q282X)

C. Cremers, B. Hamel, F. Hol, 1998, Human mutation.

horm one receptor gene

H. Brunner, H. Kremer, H. Ropers, 1995 .

Maternal-specific methylation of the human IGF2R gene is not accompanied by allele-specific transcription.

H. Ropers, V. Kalscheuer, M. Schepens, 1996, Genomics.

Absence of an obvious molecular imprinting mechanism in a human fetus with monoallelic IGF2R expression.

C. Polychronakos, H. Ropers, V. Kalscheuer, 1998, Biochemical and biophysical research communications.

A new X linked neurodegenerative syndrome with mental retardation, blindness, convulsions, spasticity, mild hypomyelination, and early death maps to the pericentromeric region

P. Wesseling, H. Kremer, H. Ropers, 1999, Journal of medical genetics.

Fine mapping of a putatively imprinted gene for familial non-chromaffin paragangliomas to chromosome 11q13.1: evidence for genetic heterogeneity

E. Mariman, C. Cremers, H. Ropers, 2004, Human Genetics.

Localization of the gene for Cowden disease to chromosome 10q22–23

E. Mariman, D. Easton, R. Eeles, 1996, Nature Genetics.

Clinical and molecular studies in a large Dutch family with Noonan syndrome.

E. Mariman, B. Hamel, S. V. van Beersum, 1994, American journal of medical genetics.

Biallelic expression of the H19 and IGF2 genes in human testicular germ cell tumors.

E. Mariman, L. Looijenga, V. Kalscheuer, 1994, Journal of the National Cancer Institute.

Mutated methylenetetrahydrofolate reductase as a risk factor for spina bifida

M. den Heyer, P. Frosst, H. Blom, 1995, The Lancet.

Four families (MRX43, MRX44, MRX45, MRX52) with nonspecific X-linked mental retardation: clinical and psychometric data and results of linkage analysis.

E. Mariman, H. Kremer, H. Ropers, 1999, American journal of medical genetics.

Germline mutations in the PTEN/MMAC1 gene in patients with Cowden disease.

M. Nelen, H. Kremer, J. Fryns, 1997, Human molecular genetics.

Demonstration of a new pathogenic mutation in human complex I deficiency: a 5-bp duplication in the nuclear gene encoding the 18-kD (AQDQ) subunit.

E. Mariman, J. Smeitink, L. P. Van den Heuvel, 1998, American journal of human genetics.

Limb mammary syndrome: a new genetic disorder with mammary hypoplasia, ectrodactyly, and other Hand/Foot anomalies maps to human chromosome 3q27.

T. Wienker, E. Mariman, H. Brunner, 1999, American journal of human genetics.

Localization of a gene for Möbius syndrome to chromosome 3q by linkage analysis in a Dutch family.

J. Leunissen, H. Kremer, B. Hamel, 1996, Human molecular genetics.

Analysis of a second family with hereditary non-chromaffin paragangliomas locates the underlying gene at the proximal region of chromosome 11q

E. Mariman, C. Cremers, H. Ropers, 1993, Human Genetics.

No evidence for paternal mtDNA transmission to offspring or extra-embryonic tissues after ICSI.

J. Poulton, A. Balen, D. Marchington, 2002, Molecular human reproduction.

Localization of the gene for dominant cystoid macular dystrophy on chromosome 7p.

A. Deutman, H. Kremer, H. Ropers, 1994, Human molecular genetics.

Genetic mapping of the human homologue (T) of mouse T(Brachyury) and a search for allele association between human T and spina bifida.

E. Mariman, J. Attwood, J. Burn, 1996, Human molecular genetics.

Prevalence of the 1.5‐Mb 17p deletion in families with hereditary neuropathy with liability to pressure palsies

F. Gabreëls, F. Baas, H. Ropers, 1994, Annals of neurology.

Detailed mapping, mutation analysis, and intragenic polymorphism identification in candidate Noonan syndrome genes MYL2,DCN, EPS8, andRPL6

A. Ion, S. Dabora, I. Burgt, 2000, Journal of medical genetics.

Altered folate and vitamin B12 metabolism in families with spina bifida offspring.

E. Mariman, H. Blom, Christopher M Thomas, 1997, QJM : monthly journal of the Association of Physicians.

A Stickler syndrome gene is linked to chromosome 6 near the COL11A2 gene.

E. Mariman, H. Brunner, H. Ropers, 1994, Human molecular genetics.

Improving the polymorphism content of the 3' UTR of the human IGF2R gene.

E. Mariman, B. Hamel, F. Hol, 1992, Human molecular genetics.

Susceptibility to spina bifida; an association study of five candidate genes

J. Burn, F. Hol, K. Morrison, 1998, Annals of human genetics.

Spina bifida and genetic factors related to myo-inositol, glucose, and zinc.

B. Franke, R. Steegers-Theunissen, H. Straatman, 2004, Molecular genetics and metabolism.