Mette Warburg
Gentofte Hospital
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Featured researches published by Mette Warburg.
Human Genetics | 1995
Allan Meldgaard Lund; Mette Warburg; Thomas Rosenberg
Congenital cataract, type Volkmann (McKusick no 115665, gene symbol CCV) is an autosomal dominant eye disease. The disease is characterized by a progressive, central and zonular cataract, with opacities both in the embryonic, fetal and juvenile nucleus and around the anterior and posterior Y-suture. We examined blood samples from 91 members of a Danish pedigree comprising 426 members, by using highly informative short tandem repeat polymorphisms and found the closest linkage of the disease gene (CCV) to a (CA)n dinucleotide repeat polymorphism at locus D1S243 (Zmax = 14.04 at θM = 0.025 θF = 0.000), at a penetrance of 0.90. Using two additional chromosome 1 markers, we were able to map the CCV gene in the sequence 1pter-(CCV, D1S243)-D1S468-D1S214. The (enolase 1) gene has been mapped to this area; however, a mutation described in this gene did not give eye disease.
Acta Ophthalmologica | 2009
Mette Warburg
A report on six children with Norries disease is presented. It is shown that the diagnosis can be established in sporadic cases if the early retrolental opacities are seen, and dementia or psychosis occurs after a normal infancy. Hearing loss is an important diagnostic sign. Children with Norries disease are more sensitive to disruption of family relationship than most other congenitally blind children.
Acta Ophthalmologica | 2009
Mette Warburg
Norries disease is an X-linked disease presenting bilateral blindness at birth or during the first few months of life. A white retrolental membrane is seen initially, later the eyes usually become phthisic. Dementia or psychosis appears in about 25% and sensory hearing loss present in 1/5 or 1/4 of the blind males. Carriers are clinically unaffected. The main differential diagnoses comprise retinoblastoma, retrolental fibroplasia, toxoplasmosis, falciform detachment, juvenile retinoschisis, sex-linked microphthalmia, sex-linked cataract and congenital retinal detachment.
Human Genetics | 1985
Liesbeth M. Bleeker-Wagemakers; Ursula Friedrich; A. Gal; Thomas F. Wienker; Mette Warburg; H. H. Ropers
SummaryNorrie disease (ND) is an X-linked recessive disorder with congenital blindness (atrophia bulborum hereditaria, pseudoglioma). Six kindreds segregating for ND were studied for linkage with polymorphic markers of the human X chromosome. No recombination was observed between the ND-locus (NDP) and the DXS7 locus, the latter followed as a DNA-restriction fragment length polymorphism, detected by the recombinant DNA probe L1.28, and assigned to the region Xp11.2–Xp11.3. The maximum lod scores are % MathType!MTEF!2!1!+-% feaafiart1ev1aaatCvAUfeBSjuyZL2yd9gzLbvyNv2CaerbuLwBLn% hiov2DGi1BTfMBaeXatLxBI9gBaerbd9wDYLwzYbItLDharqqtubsr% 4rNCHbGeaGqipu0Je9sqqrpepC0xbbL8F4rqqrFfpeea0xe9Lq-Jc9% vqaqpepm0xbba9pwe9Q8fs0-yqaqpepae9pg0FirpepeKkFr0xfr-x% fr-xb9adbaqaaeGaciGaaiaabeqaamaabaabaaGcbaWexLMBb50ujb% qeguuDJXwAKbacfiGaf8NEaONbaKaaieaacaGF9aGaa43maiaa+5ca% caGF4aGaa4xmaaaa!3FCE!
Human Genetics | 1985
Ursula Friedrich; Mette Warburg; Peter Wieacker; Thomas F. Wienker; A. Gal; H. H. Ropers
Clinical Genetics | 2008
Allan Meldgaard Lund; Thomas Rosenberg; Mette Warburg
\hat z = 3.81
Ophthalmic Genetics | 1991
Mette Warburg
Ophthalmic Genetics | 1983
Mette Warburg
at % MathType!MTEF!2!1!+-% feaafiart1ev1aaatCvAUfeBSjuyZL2yd9gzLbvyNv2CaerbuLwBLn% hiov2DGi1BTfMBaeXatLxBI9gBaerbd9wDYLwzYbItLDharqqtubsr% 4rNCHbGeaGqipu0Je9sqqrpepC0xbbL8F4rqqrFfpeea0xe9Lq-Jc9% vqaqpepm0xbba9pwe9Q8fs0-yqaqpepae9pg0FirpepeKkFr0xfr-x% fr-xb9adbaqaaeGaciGaaiaabeqaamaabaabaaGcbaaccaGaf8hUde% NbaKaacqWF9aqpcqWFWaamcqWFUaGlcqWFWaamcqWFWaamaaa!3C27!
International Ophthalmology | 1981
Mette Warburg
Developmental Medicine & Child Neurology | 2008
B. Gevene Hertz; Jacob Rosenberg; Ole Sjö; Mette Warburg
\hat \theta = 0.00