scholarly journals Hageman Trait (Factor XII Deficiency): A Probable Second Genotype Inherited as an Autosomal Dominant Characteristic

Blood ◽  
1972 ◽  
Vol 40 (3) ◽  
pp. 412-415 ◽  
Author(s):  
Bruce Bennett ◽  
Oscar D. Ratnoff ◽  
James B. Holt ◽  
Harold R. Roberts
Keyword(s):  
Autosomal Recessive ◽  
Autosomal Dominant ◽  
Molecular Defect ◽  
Factor Xii ◽  
Factor Xii Deficiency ◽  
Hageman Factor ◽  
Autosomal Recessive Form ◽  
Recessive Form ◽  
Dominant Characteristic

Abstract A family is described in which Hageman trait appeared to be inherited in an autosomal dominant manner in contrast to previously reported families in which the disorder behaves as an autosomal recessive characteristic. Immunologic studies suggested that the molecular defect was similar to that of the autosomal recessive form and consisted of deficiency of antigens related to Hageman factor.

A Genetic Study of Chronic Spinal Muscular Atrophy

1974 ◽  
Vol 23 (S1) ◽  
pp. 229-232
Author(s):  
Sarah Bundey ◽  
R.E. Lovelace
Keyword(s):  
Spinal Muscular Atrophy ◽  
Clinical Features ◽  
Genetic Study ◽  
Autosomal Recessive ◽  
Autosomal Dominant ◽  
Muscular Atrophy ◽  
Adult Life ◽  
Autosomal Recessive Form ◽  
Recessive Form ◽  
Chronic Spinal Muscular Atrophy

The identity of an autosomal recessive form of chronic spinal muscular atrophy with clinical features intermediate between acute Werdnig-Hojfmann disease and Kugelberg-Welander disease is confirmed. This form accounts for the majority of patients with spinal muscular atrophy surviving into adult life. Spinal muscular atrophy with onset after 2 years of age is a heterogeneous group and both autosomal recessive and autosomal dominant forms occur.

ZAP-70 deficiency in an autosomal recessive form of severe combined immunodeficiency

Science ◽  
1994 ◽  
Vol 264 (5165) ◽  
pp. 1599-1601 ◽  
Author(s):  
A. Chan ◽  
T. Kadlecek ◽  
M. Elder ◽  
A. Filipovich ◽  
W. Kuo ◽  
...  
Keyword(s):  
Autosomal Recessive ◽  
Severe Combined Immunodeficiency ◽  
Combined Immunodeficiency ◽  
Autosomal Recessive Form ◽  
Recessive Form

Distal hereditary motor neuropathy (DHMN): a new locus for an autosomal recessive form

2004 ◽  
Vol 9 (2) ◽  
pp. 122-123 ◽  
Author(s):  
ML Mostacciuolo ◽  
E Crestanello ◽  
F Boaretto ◽  
E Boscolo ◽  
M Liguori ◽  
...  
Keyword(s):  
Autosomal Recessive ◽  
Motor Neuropathy ◽  
Hereditary Motor ◽  
Autosomal Recessive Form ◽  
Recessive Form ◽  
Hereditary Motor Neuropathy

Respiratory insufficiency in a severe autosomal recessive form of musclar dystrophy

1984 ◽  
Vol 4 (1) ◽  
pp. 45-48 ◽  
Author(s):  
Mustafa Abdalla M. Salih ◽  
Assadour Ekmejian ◽  
Mohamed Ibrahim A. Omer
Keyword(s):  
Respiratory Insufficiency ◽  
Autosomal Recessive ◽  
Autosomal Recessive Form ◽  
Recessive Form

scholarly journals An autosomal recessive form of spastic cerebral palsy (CP) with microcephaly and mental retardation

2006 ◽  
Vol 140A (14) ◽  
pp. 1504-1510 ◽  
Author(s):  
Anna Rajab ◽  
Seung-Yun Yoo ◽  
Aiman Abdulgalil ◽  
Salem Kathiri ◽  
Riaz Ahmed ◽  
...  
Keyword(s):  
Cerebral Palsy ◽  
Mental Retardation ◽  
Autosomal Recessive ◽  
Spastic Cerebral Palsy ◽  
Autosomal Recessive Form ◽  
Recessive Form

An autosomal recessive form of hemimelia in dogs

1982 ◽  
Vol 110 (6) ◽  
pp. 128-129 ◽  
Author(s):  
R. Alonso ◽  
A. Hernandez ◽  
P. Diaz ◽  
J. Cantu
Keyword(s):  
Autosomal Recessive ◽  
Autosomal Recessive Form ◽  
Recessive Form

Another autosomal recessive form of focal glomerulosclerosis with neurological findings

2002 ◽  
Vol 17 (1) ◽  
pp. 16-19 ◽  
Author(s):  
H. Nakazato ◽  
S. Hattori ◽  
S. Karashima ◽  
T. Kawano ◽  
S. Seguchi ◽  
...  
Keyword(s):  
Autosomal Recessive ◽  
Focal Glomerulosclerosis ◽  
Autosomal Recessive Form ◽  
Neurological Findings ◽  
Recessive Form

Recent Advances in Gene Mapping of Skin Diseases: Pseudoxanthoma Elasticum: A Satisfying Sibling Study

1999 ◽  
Vol 3 (3) ◽  
pp. 154-156 ◽  
Author(s):  
Sherri J. Bale
Keyword(s):  
Linkage Analysis ◽  
Autosomal Recessive ◽  
Recent Progress ◽  
Autosomal Dominant ◽  
Skin Diseases ◽  
Pseudoxanthoma Elasticum ◽  
Molecular Defect ◽  
Parametric Linkage Analysis ◽  
Affected Sib Pair ◽  
Made In

Background: A review of the recent progress made in mapping of the hereditary skin disease pseudoxanthoma elasticum is presented. Methods: Affected sib pair methods, parametric linkage analysis, and linkage heterogeneity tests are reviewed as applied to the effort to identify the location of the pseudoxanthoma elasticum gene. Results: Families segregating either autosomal dominant or autosomal recessive pseudoxanthoma elasticum mapped to chromosome 16p13.1. Conclusion: There is a gene for pseudoxanthoma elasticum on chromosome 16p. The underlying molecular defect remains to be elucidated.

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