Results 81 to 90 of about 21,083 (128)

Familial Primary Pulmonary Hypertension

Southern Medical Journal, 1974
Primary pulmonary hypertension occurring in a 21-year-old woman, her father, and her father's sister is documented. The diagnosis was established by cardiac catheterization in all of the patients. Pulmonary arteriography was done in two cases and a postmortem examination in one.
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Heterogeneity of Pathologic Lesions in Familial Primary Pulmonary Hypertension

American Review of Respiratory Disease, 1988
We analyzed lung specimens from 23 affected members of 13 families with known familial primary pulmonary hypertension. In this heritable disease, the pathogenetic basis of disease should be distinct within families, and the pathologic lesions should reflect the underlying biologic mechanisms.
J E, Loyd, J B, Atkinson, G G, Pietra, R, Virmani, J H, Newman   +4 more
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Detection of Familial Primary Pulmonary Hypertension by Genetic Testing

New England Journal of Medicine, 1997
To the Editor: A familial form of primary pulmonary hypertension has been described and characterized.1,2 Its incidence in the general population ranges from 1 to 2 cases per million people, and it accounts for 6 percent of the 187 cases of primary pulmonary hypertension in the registry of the National Institutes of Health.3 The histopathologic and ...
J H, Morse, R J, Barst
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Familial Occurrence of Primary Pulmonary Hypertension

Archives of Internal Medicine, 1966
A NUMBER of studies of primary pulmonary hypertension have suggested that this disease may occur in a familial form.1-8In a previous communication from this laboratory, a family in which five members in three generations had primary pulmonary hypertension was described.9It is the purpose of this report to describe a kindred in which primary pulmonary ...
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[Primary familial pulmonary arterial hypertension].

Revue des maladies respiratoires, 1998
The authors present the case of three young female patients, of the same family, with all quickly fatal Primary Pulmonary Hypertension (PPH). Their clinical signs and paraclinical investigations were suggestive of a PPH and excluded all others causes of Pulmonary Hypertension.
A, Scherpereel, F, Steenhouwer, P, Quandalle, S, Dennetière, Y, Haftel, N, Declercq, J M, Demarcq   +6 more
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BMPR2 mutations found in Japanese patients with familial and sporadic primary pulmonary hypertension

Human Mutation, 2004
Primary pulmonary hypertension (PPH) is a potentially lethal disorder, in which heterozygous mutations within the bone morphogenetic protein type II receptor (BMPR2) gene (BMPR2) have been identified. We conducted a molecular study of BMPR2 mutations in 4 Japanese families with familial PPH and 30 Japanese patients with sporadic PPH, and found 13 ...
Hiroko, Morisaki, Norifumi, Nakanishi, Shingo, Kyotani, Atsushi, Takashima, Hitonobu, Tomoike, Takayuki, Morisaki   +5 more
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Localization of the gene for familial primary pulmonary hypertension to chromosome 2q31–32

Nature Genetics, 1997
Primary pulmonary hypertension (PPH), an often fatal disease, is characterized by elevated pulmonary artery pressures in the absence of a secondary cause. Endovascular occlusion in the smallest pulmonary arteries occurs by proliferation of cells and matrix, with thrombus and vasospasm.
W C, Nichols, D L, Koller, B, Slovis, T, Foroud, V H, Terry, N D, Arnold, D R, Siemieniak, L, Wheeler, J A, Phillips, J H, Newman, P M, Conneally, D, Ginsburg, J E, Loyd   +12 more
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Mapping of Familial Primary Pulmonary Hypertension Locus (PPH1) to Chromosome 2q31-q32

Circulation, 1997
Background The pathogenesis of primary pulmonary hypertension (PPH) is unknown, although in some instances families with multiple affected members suggest a genetic etiology. Methods and Results We used microsatellite markers and linkage analysis in a large family with PPH to ...
J H, Morse, A C, Jones, R J, Barst, S E, Hodge, K C, Wilhelmsen, T G, Nygaard   +5 more
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Familial primary pulmonary hypertension: clinical patterns.

The American review of respiratory disease, 1984
We recently identified a family with 6 deaths in 2 generations from primary pulmonary hypertension. The disease was undiagnosed in several of them, and the family members, geographically separated, were unaware that there was a familial disease. We hypothesized that familial primary pulmonary hypertension (FPPH) might be labeled as nonfamilial in ...
J E, Loyd, R K, Primm, J H, Newman
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Bone morphogenetic protein receptor-II mutation Arg491Trp causes malignant phenotype of familial primary pulmonary hypertension

Biochemical and Biophysical Research Communications, 2004
A four-generation pedigree of familial primary pulmonary hypertension (FPPH) with 14 alive members was collected. In the family, three of the 14 alive familial members were diagnosed as FPPH. Mutations in bone morphogenetic protein receptor-II (BMPR-II) gene were screened by using sequencing analysis.
Jing, Zhicheng, Lu, Lihe, Han, Zhiyan, Cheng, Xiansheng, Zou, Yubao, Yang, Yuejin, Hui, Rutai   +6 more
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