Results 241 to 250 of about 10,347 (278)
Some of the next articles are maybe not open access.
Autosomal Dominant Osteopetrosis
SSRN Electronic Journal, 2022Autosomal 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. +2 more
openaire +5 more sources
Pediatrics, 1963
THE RAPID GROWTH of human cytogenetics imposes, as a corollary, the progressive restriction of the scope of a talk on this subject. Two years ago, a quarter of an hour was sufficient for a general survey; today, a whole hour is filled with one topic only. Without being a prophet, it can be seriously foreseen that some day, a Blackfan Lecture restricted
openaire +3 more sources
THE RAPID GROWTH of human cytogenetics imposes, as a corollary, the progressive restriction of the scope of a talk on this subject. Two years ago, a quarter of an hour was sufficient for a general survey; today, a whole hour is filled with one topic only. Without being a prophet, it can be seriously foreseen that some day, a Blackfan Lecture restricted
openaire +3 more sources
Clinical Genetics, 1976
We found six children with presumptive Y/autosomal translocation in a study of 11,148 liveborn children at the Århus State Maternity Hospital, Denmark. The present study deals with the results of family investigation of the six children, who were found in five families.
J, Nielsen, K, Rasmussen
openaire +2 more sources
We found six children with presumptive Y/autosomal translocation in a study of 11,148 liveborn children at the Århus State Maternity Hospital, Denmark. The present study deals with the results of family investigation of the six children, who were found in five families.
J, Nielsen, K, Rasmussen
openaire +2 more sources
Autosomal Dominant Vitreoretinochoroidopathy
Archives of Ophthalmology, 1982Autosomal 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 ...
S J, Kaufman +5 more
openaire +2 more sources
Autosomal Dominant Osteopetrosis
Clinical Orthopaedics and Related Research, 1993Autosomal 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 ...
J, Bollerslev, L, Mosekilde
openaire +2 more sources
Phenotype- Autosomal Recessive Osteopetrosis
SSRN Electronic Journal, 2022Osteopetrosis (OPT) is a life-threatening disease characterized by increased bone mass caused by diminished osteoclast function/differentiation. The autosomal recessive forms, caused by biallelic variants in implicated genes, usually present in infancy. Without treatment, autosomal recessive OPTs are usually fatal within the first 10 years of life [1].
Nishitha R, Pillai +2 more
openaire +2 more sources
Autosomal dominant microcephaly
The Journal of Pediatrics, 1979Four 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.
R H, Haslam, D W, Smith
openaire +2 more sources
Autosomal Dominant Osteosclerosis
Radiology, 1977Two 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,
R J, Gorlin, L, Glass
openaire +4 more sources
European Journal of Medical Genetics, 2010
Microtia (MIM600674) is a congenital malformation which occurs in 1/8000-10000 births. It is characterized by a small, and abnormally shaped pinna. It ranges in severity from a bump of tissue to a partially formed ear cup. Microtia is often associated with atresia of the external auditory canal.
S, Chafai Elalaoui +3 more
openaire +2 more sources
Microtia (MIM600674) is a congenital malformation which occurs in 1/8000-10000 births. It is characterized by a small, and abnormally shaped pinna. It ranges in severity from a bump of tissue to a partially formed ear cup. Microtia is often associated with atresia of the external auditory canal.
S, Chafai Elalaoui +3 more
openaire +2 more sources
Autosomal dominant microcephaly
The Journal of Pediatrics, 1983Haslam in his reply to a letter presenting a new family with autosomal dominant microcephaly, affirms that the number of patients with this anomaly is increasing and suggests caution in making the diagnosis. The autosomal dominant chorioretinal dysplasia - microcephaly-mental retardation syndrome, which has variability of expression, must also be ...
Tenconi R, CLEMENTI, MAURIZIO, Audino G.
openaire +2 more sources