Rotgrün-Blindheit bei einem heterogametischen Schein-Mädchen, zugleich ein Beitrag zur Genetik der heterogametischen Pseudofemininität

1957 ◽  
Vol 6 (2) ◽  
pp. 231-246 ◽  
Author(s):  
W. Lenz
Keyword(s):  
Gonadal Dysgenesis ◽  
Colour Vision ◽  
Autosomal Dominant ◽  
Cytological Diagnosis ◽  
Testicular Feminization ◽  
Autosomal Dominant Transmission ◽  
Sex Limitation ◽  
Testicular Dysgenesis ◽  
Green Sensitivity ◽  
Made In

SUMMARYBy cytological diagnosis of chromosomal sex it has been shown, that about 80 per cent of all cases of gonadal dysgenesis are genetically male. In about 8 per cent of male individuals various defects of red-green sensitivity may be expected. Deuteranopia was observed in a hetero-gametic pseudo-female with testicular dysgenesis. Tests for colour vision should be made in all patients with the syndrome of testicular feminization. From such tests a decision may be expected between sex- linked recessive and autosomal dominant transmission with sex limitation.

46,XY gonadal dysgenesis: Evidence for autosomal dominant transmission in a large kindred

2002 ◽  
Vol 116A (1) ◽  
pp. 37-43 ◽  
Author(s):  
C�dric Le Caignec ◽  
Sabine Baron ◽  
Ken McElreavey ◽  
Madeleine Joubert ◽  
Jean-Marie Rival ◽  
...  
Keyword(s):  
Gonadal Dysgenesis ◽  
Autosomal Dominant ◽  
Autosomal Dominant Transmission ◽  
Xy Gonadal Dysgenesis

Autosomal dominant transmission of nevus sebaceous of Jadassohn

2012 ◽  
Vol 18 (11) ◽  
Author(s):  
Cameron West ◽  
Swetha Narahari ◽  
Shawn Kwatra ◽  
Steven Feldman
Keyword(s):  
Autosomal Dominant ◽  
Autosomal Dominant Transmission ◽  
Nevus Sebaceous

Familial third-fourth pharyngeal pouch syndrome with apparent autosomal dominant transmission

1984 ◽  
Vol 105 (1) ◽  
pp. 47-51 ◽  
Author(s):  
Reuben D. Rohn ◽  
Mary S. Leffell ◽  
Paul Leadem ◽  
David Johnson ◽  
Thomas Rubio ◽  
...  
Keyword(s):  
Autosomal Dominant ◽  
Pharyngeal Pouch ◽  
Autosomal Dominant Transmission

Lymphangioleiomyomatosis

2020 ◽  
Vol 41 (02) ◽  
pp. 256-268 ◽  
Author(s):  
Kai-Feng Xu ◽  
Wenshuai Xu ◽  
Song Liu ◽  
Jane Yu ◽  
Xinlun Tian ◽  
...  
Keyword(s):  
Mtor Inhibitor ◽  
Autosomal Dominant ◽  
The United States ◽  
Neoplastic Disease ◽  
Mechanistic Target Of Rapamycin ◽  
Female Sex Hormones ◽  
Tremendous Progress ◽  
High Prevalence ◽  
Thin Walled ◽  
Made In

AbstractLymphangioleiomyomatosis (LAM) is a slow albeit progressive rare neoplastic disease featured with diffuse thin-walled cysts in lungs and angiomyolipomas in kidneys. LAM affects almost exclusively women and has one of the strongest gender predispositions of any extragenital human disease. Two forms of LAM present clinically, sporadic (S-LAM) and tuberous sclerosis complex-associated (TSC-LAM). TSC is an autosomal dominant genetic multisystems neoplastic disease. A high prevalence of LAM can be detected in adult female TSC patients. Tremendous progress has been made in our understanding and management of this rare disease. Both LAM and TSC are TSC2 or TSC1 mutated diseases that result in overactivation of the mechanistic target of rapamycin (mTOR) pathway. Sirolimus, an mTOR inhibitor, has been approved for LAM treatment in the United States and many other countries. Therapies targeting female sex hormones have shown preclinical efficacy in animal and cell culture-based experiments, but have not been properly investigated clinically. In this review, we summarize current recommendations in the diagnosis and treatment of LAM.

Cerebro-costo-mandibular syndrome in a father and a female fetus: early prenatal ultrasonographic diagnosis and autosomal dominant transmission

2001 ◽  
Vol 21 (10) ◽  
pp. 890-893 ◽  
Author(s):  
Gilles Morin ◽  
Jean Gekas ◽  
Philippe Naepels ◽  
Jean Gondry ◽  
Bernard Devauchelle ◽  
...  
Keyword(s):  
Autosomal Dominant ◽  
Female Fetus ◽  
Ultrasonographic Diagnosis ◽  
Autosomal Dominant Transmission

The pseudo-posterior limiting layer syndrome: a vitreoretinal heredodegeneration with autosomal dominant transmission

1995 ◽  
Vol 233 (12) ◽  
pp. 805-806
Author(s):  
M.P. Snead ◽  
D.K. Newmann ◽  
A. Poulson ◽  
J.D. Scott ◽  
J. Rossier ◽  
...  
Keyword(s):  
Autosomal Dominant ◽  
Autosomal Dominant Transmission

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.

scholarly journals Hypercalcemia, Hypercalciuria, and Elevated Calcitriol Concentrations with Autosomal Dominant Transmission Due toCYP24A1Mutations: Effects of Ketoconazole Therapy

2012 ◽  
Vol 97 (3) ◽  
pp. E423-E427 ◽  
Author(s):  
Peter J. Tebben ◽  
Dawn S. Milliner ◽  
Ronald L. Horst ◽  
Peter C. Harris ◽  
Ravinder J. Singh ◽  
...  
Keyword(s):  
Autosomal Dominant ◽  
Autosomal Dominant Transmission

Autosomal dominant transmission of familial laterality defects

1996 ◽  
Vol 61 (4) ◽  
pp. 325-328 ◽  
Author(s):  
B. Casey ◽  
B. F. Cuneo ◽  
C. Vitali ◽  
H. van Hecke ◽  
J. Barrish ◽  
...  
Keyword(s):  
Autosomal Dominant ◽  
Autosomal Dominant Transmission ◽  
Laterality Defects
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