Results 361 to 370 of about 1,639,589 (408)

Genetic Semantic Dementia? Twins’ Data and Review of Autosomal Dominant Cases

Henderson SK, Lambon Ralph MA, Simon Jones P, Naessens M, Cope TE, Whiteside DJ, Bouzigues A, Russell LL, Foster PH, Ferry-Bolder E, van Swieten J, Jiskoot L, Seelaar H, Sanchez-Valle R, Galimberti D, Synofzik M, Borroni B, Rohrer JD, GENetic Frontotemporal dementia Initiative (GENFI), Rowe JB, Patterson KE.   +20 more
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Autosomal Dominant Osteopetrosis

SSRN Electronic Journal, 2022
Autosomal dominant osteopetrosis (ADO) is the most common form of osteopetrosis. ADO is characterized by generalized osteosclerosis along with characteristic radiographic features such as a "bone-in-bone" appearance of long bones and sclerosis of the superior and inferior vertebral body endplates.
Polgreen, Lynda E., Imel, Erik A., Econs, Michael J.   +2 more
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Autosomal dominant erythromelalgia [PDF]

American Journal of Medical Genetics, 1992
AbstractWe present a kindred of 29 persons affected with erythromelalgia (erythermalgia) in 5 generations. This paper updates the family reported by Burbank et al. [1966]. Patients have symptoms of intermittent intense burning limb pain related to increased skin temperature.
J. R. Lindsey, Jo-David Fine, G. A. Dixon, M. K. Burbank, Wayne H. Finley   +4 more
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Autosomal Dominant Osteosclerosis

Radiology, 1977
Two cases of a craniotubular hyperostosis are presented. The radiographic features closely resemble Van Buchem disease (hyperostosis corticalis generalisata; endosteal hyperostosis, recessive type), including symmetrical and bilateral diaphyseal cortical thickening of the long and short tubular bones as well as sclerosis and thickening of the calvaria,
Lillian Glass, Robert J. Gorlin
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AUTOSOMAL DOMINANT VITREORETINOCHOROIDOPATHY

Retina, 1997
Autosomal dominant vitreoretinochoroidopathy recently has been described as a condition characterized by peripheral chorioretinal atrophy and areas of hypopigmentation and hyperpigmentation between the equator and the ora serrata circumferentially in the ocular fundus.
Johann Roider, Horst Laqua, Erdmann Fritsch, Hans Hoerauf, Wolfgang Heide   +4 more
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Autosomal Dominant Vitreoretinochoroidopathy

Archives of Ophthalmology, 1982
Autosomal dominant vitreoretinochoroidopathy is a newly described fundus dystrophy characterized by abnormal chorioretinal hypopigmentation and hyperpigmentation, usually lying between the vortex veins and the ora serrata for 360 degrees. In this zone, there are a discrete posterior boundary, preretinal punctate white opacities, retinal arteriolar ...
Howard H. Tessler, David H. Orth, Morton F. Goldberg, Gerald A. Fishman, Stuart Kaufman, Katsuyoshi Mizuno   +5 more
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Autosomal Dominant Osteopetrosis

Clinical Orthopaedics and Related Research, 1993
Autosomal dominant osteopetrosis is radiographically characterized by universal osteosclerosis, primarily involving the axial skeleton, and by symmetrical affections of the long bones without modeling defects. Based on standard radiographs, it is possible to describe two different subtypes with different clinical, biochemical, and histologic ...
Jens Bollerslev, Leif Mosekilde
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Autosomal dominant microcephaly

The Journal of Pediatrics, 1979
Four families with autosomal dominant microcephaly are reported. Although the phenotype is nondistinctive, several patients had receding or small foreheads, upslanted palpebral fissures, or prominent ears. The degree of intellectual dysfunction is not as severe as that recorded in autosomal recessive microcephaly.
David Smith, Robert H.A. Haslam
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