M. Warburg

发表

Visual impairment in adult people with intellectual disability: literature review.

M. Warburg, 2001, Journal of intellectual disability research : JIDR.

Visual impairment in adult people with moderate, severe, and profound intellectual disability.

M. Warburg, 2001, Acta ophthalmologica Scandinavica.

Mutations of the catalytic subunit of RAB3GAP cause Warburg Micro syndrome

Colin A. Johnson, D. Horn, S. Mundlos, 2005, Nature Genetics.

Cohen syndrome is caused by mutations in a novel gene, COH1, encoding a transmembrane protein with a presumed role in vesicle-mediated sorting and intracellular protein transport.

J. Clayton-Smith, A. de la Chapelle, M. Warburg, 2003, American journal of human genetics.

Visual impairment among people with developmental delay.

M. Warburg, 2008, Journal of intellectual disability research : JIDR.

A molecular analysis of the yemenite deaf-blind hypopigmentation syndrome: SOX10 dysfunction causes different neurocristopathies.

R. Hennekam, N. Tommerup, M. Warburg, 1999, Human molecular genetics.

Genetics of microphthalmos

M. Warburg, 1981, International Ophthalmology.

X-inactivation pattern in carriers of X-linked retinitis pigmentosa: A valuable means of prognostic evaluation?

M. Warburg, A. L. Jørgensen, U. Friedrich, 1993, Human Genetics.

Autosomal dominant congenital cataract; linkage relations; clinical and genetic heterogeneity

M. Warburg, T. Rosenberg, H. Eiberg, 1992, Clinical genetics.

Deletion mapping of a retinal cone-rod dystrophy: assignment to 18q211.

H. Fledelius, M. Warburg, L. Tranebjaerg, 1991, American journal of medical genetics.

Ocular coloboma and multiple congenital anomalies: The CHARGE association

M. Warburg, 1983 .

A CASE OF 13–15 TRISOMY OR BARTHOLIN‐PATAU'S SYNDROME

M. Warburg, M. Mikkelsen, 1963, Acta ophthalmologica.

Duchenne muscular dystrophy: negative electroretinograms and normal dark adaptation. Reappraisal of assignment of X linked incomplete congenital stationary night blindness.

M. Warburg, H. Jensen, O. Sjö, 1995, Journal of medical genetics.

Organization of the Distribution of Low-Vision Aids

M. Warburg, 1986 .

Classification of microphthalmos and coloboma.

M. Warburg, 1993, Journal of medical genetics.

Traumatic blindness in Denmark.

M. Warburg, 1958, Danish medical bulletin.

Anophthalmia-microphthalmia-oblique clefting syndrome: confirmation of the Fryns anophthalmia syndrome.

M. Warburg, S. Bolund, F. Skovby, 1997, American journal of medical genetics.

Coloboma and microphthalmos in chromosomal aberrations. Chromosomal aberrations and neural crest cell developmental field.

M. Warburg, U. Friedrich, 1987, Ophthalmic paediatrics and genetics.

ANOPHTHALMOS COMPLICATED BY MENTAL RETARDATION AND CLEFT PALATE

M. Warburg, 1960 .

The Hurler/Scheie phenotype in children from a consanguineous marriage: case report with electronmicroscopy of the conjunctiva and ERG.

M. Warburg, O. A. Jensen, S. Vestermark, 1980, Metabolic and pediatric ophthalmology.

Hurler/Scheie Phenotype

M. Warburg, O. A. Jensen, S. Vestermark, 1978 .

Dystrophy: a revised definition.

M. Warburg, H. U. Møller, H. Møller, 1989, Journal of medical genetics.

An update on microphthalmos and coloboma. A brief survey of genetic disorders with microphthalmos and coloboma.

M. Warburg, 1991, Ophthalmic paediatrics and genetics.

If only you do it well. Autobiography.

M. Warburg, 1996, Ophthalmic genetics.

Cytogenetic findings indicate heterogeneity in patients with blepharophimosis, epicanthus inversus, and developmental delay.

M. Warburg, K. Brøndum‐Nielsen, M. Bugge, 1995, Journal of medical genetics.

Update of sporadic microphthalmos and coloboma. Non-inherited anomalies.

M. Warburg, 1992, Ophthalmic paediatrics and genetics.

Update of sporadic microphthalmos and coloboma

M. Warburg, 1992 .

Diagnostic precision in microphthalmos and coloboma of heterogeneous origin.

M. Warburg, 1982, Birth defects original article series.

OCULAR ALBINISM AND PROTANOPIA IN THE SAME FAMILY

M. Warburg, 1964, Acta ophthalmologica.

The Yemenite deaf-blind hypopigmentation syndrome. A new oculo-dermato-auditory syndrome.

N. Tommerup, M. Warburg, K. Weismann, 1990, Ophthalmic paediatrics and genetics.

Hydrocephaly, congenital retinal nonattachment, and congenital falciform fold.

M. Warburg, 1978, American journal of ophthalmology.

Diagnosis of metabolic eye diseases

M. Warburg, 1972 .

Delineation of Cohen syndrome following a large-scale genotype-phenotype screen.

Elias I Traboulsi, Jill Clayton-Smith, Jean-Pierre Fryns, 2004, American journal of human genetics.

NORRIE'S DISEASE

M. Warburg, 1975, Acta ophthalmologica.

OCULAR CHANGES IN SIMPLE TRISOMY AND IN A FEW CASES OF PARTIAL TRISOMY

M. Warburg, S. R. Andersen, 1968, Acta ophthalmologica.

COLOBOMATA OF THE IRIS, CILIARY BODY AND CHOROID IN AN INFANT WITH OESOPHAGO‐TRACHEAL FISTULA AND CONGENITAL HEART DEFECTS. AN UNKNOWN MALFORMATION COMPLEX

M. Warburg, I. Hägerstrand, K. Lillquist, 1980, Acta paediatrica Scandinavica.

Autosomal recessive microcephaly, microcornea, congenital cataract, mental retardation, optic atrophy, and hypogenitalism. Micro syndrome.

H. Fledelius, M. Warburg, O. Sjö, 1993, American journal of diseases of children.

Visual impairment in Nordic children

M. Warburg, T. Rosenberg, S. Rudanko, 1992, Acta ophthalmologica.

Small eyes: descriptional misconceptions.

M. Warburg, Mette Warburg, 1995, American journal of medical genetics.

Isolation of a candidate gene for Norrie disease by positional cloning

A. Monaco, T. Meitinger, B. Lorenz, 1992, Nature Genetics.

Close linkage between Norrie disease, a cloned DNA sequence from the proximal short arm, and the centromere of the X chromosome

T. Wienker, M. Warburg, H. Ropers, 2004, Human Genetics.

Ring chromosome 22 and neurofibromatosis

G. B. Petersen, N. Tommerup, M. Warburg, 1992, Clinical genetics.

Interstitial deletion 1p in a 30 year old woman.

M. Warburg, M. Petersen, 1987, Journal of medical genetics.

FOCAL DERMAL HYPOPLASIA

M. Warburg, 1970, Acta ophthalmologica.

Tracing and training of blind and partially sighted patients in institutions for the mentally retarded.

M. Warburg, 1970, Danish medical bulletin.

[Ophthalmological services to mentally retarded persons. A review and recommendations].

M. Warburg, R. Riise, 1994, Ugeskrift for laeger.

Integrated education of visually handicapped children: lines of communication between the professionals in charge.

M. Warburg, 1975, Child: care, health and development.

Doyne Memorial Lecture, 1979. Retinal malformations: aetiological heterogeneity and morphological similarity in congenital retinal non-attachment and falciform folds.

M. Warburg, 1979, Transactions of the ophthalmological societies of the United Kingdom.

Congenital X-linked cataract, dental anomalies and brachymetacarpalia.

E. Helveston, M. Warburg, W. Nance, 1974, Birth defects original article series.

The Cohen syndrome. Retinal lesions and granulocytopenia.

M. Warburg, S. A. Pedersen, H. Hørlyk, 1990, Ophthalmic paediatrics and genetics.

X-linked cataract and X-linked microphthalmos: how many deletion families?

M. Warburg, 1989, American journal of medical genetics.

Linkage mapping in 29 Bardet-Biedl syndrome families confirms loci in chromosomal regions 11q13, 15q22.3-q23, and 16q21.

M Jay, N. Tommerup, E. Bruford, 1997, Genomics.

Blepharophimosis, corneal vascularization, deafness, and acroosteolysis: A “new” syndrome?

M. Warburg, G. Richard, K. Brøndum‐Nielsen, 2006, American journal of medical genetics. Part A.

Electrophysiological study of Norrie's disease. An X-linked recessive trait with hearing loss.

M. Warburg, C. Elberling, A. Parving, 1978, Audiology : official organ of the International Society of Audiology.

Audiological findings in Norrie's disease.

M. Warburg, A. Parving, 1977, Audiology : official organ of the International Society of Audiology.

Retinal cone dysfunction and mental retardation associated with a de novo balanced translocation 1;6(q44;q27).

M. Warburg, L. Tranebjaerg, O. Sjo, 1986, Ophthalmic paediatrics and genetics.

NORRIE'S DISEASE

M. Warburg, 1961, Birth defects original article series.

NORRIE'S DISEASE (ATROFIA BULBORUM HEREDITARIA)

M. Warburg, 1963, Acta ophthalmologica.

Nome's disease: close linkage with genetic markers from the proximal short arm of the X chromosome

T. Wienker, M. Warburg, H. Ropers, 1985, Clinical genetics.

Kabuki syndrome – Report of six cases and review of the literature with emphasis on ocular features

M. Warburg, A. Toutain, I. Kluijt, 2000, Ophthalmic genetics.

Norrie's disease. A congenital progressive oculo-acoustico-cerebral degeneration.

M. Warburg, 1966, Acta ophthalmologica.

Mutations in the candidate gene for Norrie disease.

T. Meitinger, M. Warburg, A. Meindl, 1992, Human molecular genetics.

A CASE OF SYMMETRICAL MUSCULAR CONTRACTURES DUE TO SARCOIDOSIS

M. Warburg, 1955, Journal of neuropathology and experimental neurology.

DEVELOPMENT OF THE CORNEA

M. Warburg, 1974 .

Aniridia, Cataract and Gonadoblastoma in a Mentally Retarded Girl with Deletion of Chromosome 11

M. Warburg, A. Parving, M. Mikkelsen, 1978 .

X-linked retinitis pigmentosa: linkage with the centromere and a cloned DNA sequence from the proximal short arm of the X chromosome

T. Wienker, M. Warburg, H. Ropers, 1985, Human Genetics.

Chromosome 6q deletion and retinal cone dystrophy.

M. Warburg, L. Tranebjaerg, O. Sjö, 1991, American journal of medical genetics.

GENETIC CAUSES OF VISUAL IMPAIRMENT IN CHILDHOOD

M. Warburg, 1986 .

X-linked retinitis pigmentosa: New map studies of XLRP2, and a possible human centromere effect

M. Warburg, T. Kruse, U. Friedrich, 1992, Human Genetics.

ACUITY CARD TESTING OF PATIENTS WITH CEREBRAL VISUAL IMPAIRMENT

M. Warburg, O. Sjö, B. G. Hertz, 1988, Developmental medicine and child neurology.

HALLERMANN‐STREIFF SYNDROME

M. Warburg, I. Caspersen, 1968, Acta ophthalmologica.

The genotype-phenotype controversy in ophthalmology. Implications of heterogeneity on diagnosis, embryology and molecular function.

M. Warburg, 1998, Acta ophthalmologica.

OCCUPATIONAL PROGNOSIS IN EXCESSIVE MYOPIA

M. Warburg, 1959, Acta ophthalmologica.

Clinical reinvestigation and linkage analysis in the family with Episkopi blindness (Norrie disease).

T. Wienker, M. Warburg, P. Ioannou, 1992, Journal of medical genetics.

Ocular malformations and lissencephaly

M. Warburg, 1987, European Journal of Pediatrics.

SEX‐LINKED RECESSIVE RETINITIS PIGMENTOSA

M. Warburg, S. E. Simonsen, 1968, Acta ophthalmologica.

Blepharo-cheilo-dontic (BCD) syndrome.

E. Zackai, M. Warburg, B. Prahl-Andersen, 2009, American journal of medical genetics.

Neuronal cell death in the visual cortex is a prominent feature of the X-linked recessive mitochondrial deafness-dystonia syndrome caused by mutations in the TIMM8a gene

K. Skullerud, M. Warburg, A. Fuglsang-Frederiksen, 2001, Ophthalmic genetics.

Juvenile Kearns-Sayre syndrome initially misdiagnosed as a psychosomatic disorder.

M. Warburg, H. Schmalbruch, S. Norby, 1994, Journal of medical genetics.

Assignment of congenital cataract Volkmann type (CCV) to chromosome 1p36

M. Warburg, T. Rosenberg, H. Eiberg, 1995, Human Genetics.

[Marinesco-Sjögren syndrome].

M. Warburg, 1974, Ugeskrift for læger.

Interstitial deletion 13q: further delineation of the syndrome by clinical and high-resolution chromosome analysis of five patients.

N. Tommerup, M. Warburg, L. Tranebjaerg, 1988, American journal of medical genetics.

Chorioretinal dysplasia-microcephaly-mental retardation syndrome.

M. Warburg, H. Heuer, H. Heuer, 1994, American journal of medical genetics.

Ocular pathology in the elfin face syndrome (the Fanconi-Schlesinger type of idiopathic hypercalcaemia of infancy). Histochemical and ultrastructural study of a case.

M. Warburg, O. A. Jensen, A. Dupont, 1976, Ophthalmologica. Journal international d'ophtalmologie. International journal of ophthalmology. Zeitschrift fur Augenheilkunde.

MICROPHTHALMOS AND COLOBOMATA AMONG MENTALLY RETARDED INDIVIDUALS

M. Warburg, 1981, Acta ophthalmologica.

Defective maturation of granulocytes, retinal cysts and multiple skeletal malformations in a mentally retarded girl.

M. Warburg, J. Danielsen, C. Plum, 1978, Acta Haematologica.

[Down's syndrome. Mongolism, trisomy 21].

M. Warburg, E. Niebuhr, M. Mikkelsen, 1971, Ugeskrift for laeger.

The heterogeneity of microphthalmia in the mentally retarded.

M. Warburg, 1972, Birth defects original article series.

Norrie's disease.

M. Warburg, 1971, Transactions of the ophthalmological societies of the United Kingdom.

X-LINKED RETINITIS PIGMENTOSA

M. Warburg, 1967 .

The X Chromosome and the Eye

M. Warburg, 1974 .

The X chromosome and the eye. The implications of recent microbiological models for clinical ophthalmology.

M. Warburg, 1974, Human heredity.

Random inactivities of the X chromosome in intermediate X-linked retinitis pigmentosa. Two hypotheses.

M. Warburg, 1971, Transactions of the ophthalmological societies of the United Kingdom.

Carriers of X-linked retinitis pigmentosa. A fluorophotometric determination of the permeability of the blood-retinal barrier.

M. Larsen, H. Lund‐Andersen, M. Warburg, 1986, Ophthalmic paediatrics and genetics.

DISEASES OF THE EYE AMONG MENTAL DEFECTIVES

M. Warburg, 1963, Acta ophthalmologica.

Business History and Biography

M. Warburg, A. Sherman, E. Rosenbaum, 1979 .

Menkes diseases.

M. Warburg, N. Horn, 1976, Birth defects original article series.

Mild Noonan phenotype associated with coloboma of the iris and choroid.

M. Warburg, C. Gravholt, U. Friedrich, 2002, Clinical dysmorphology.

Heterogeneity of congenital retinal non-attachment, falciform folds and retinal dysplasia. A guide to genetic counselling.

M. Warburg, 1976, Human Heredity.

The syndrome of opticoacoustic nerve atrophy with dementia.

M. Warburg, E. Reske‐Nielsen, O. Hein-Sørensen, 1987, American journal of medical genetics.

WHY ARE THE BLIND AND SEVERELY VISUALLY IMPAIRED CHILDREN WITH MENTAL RETARDATION MUCH MORE RETARDED THAN THE SIGHTED CHILDREN?

M. Warburg, 1983, Acta ophthalmologica. Supplementum.