scholarly journals SSBP1-Disease Update: Expanding the Genetic and Clinical Spectrum, Reporting Variable Penetrance and Confirming Recessive Inheritance

2021 ◽  
Vol 62 (15) ◽  
pp. 12
Author(s):  
Neringa Jurkute ◽  
Fabiana D'Esposito ◽  
Anthony G. Robson ◽  
Robert D. S. Pitceathly ◽  
Francesca Cordeiro ◽  
...  
Keyword(s):  
Clinical Spectrum ◽  
Recessive Inheritance ◽  
Variable Penetrance

Recessive inheritance and variable penetrance of slow-channel congenital myasthenic syndromes

Neurology ◽  
2002 ◽  
Vol 59 (2) ◽  
pp. 162-168 ◽  
Author(s):  
R. Croxen ◽  
C. Hatton ◽  
C. Shelley ◽  
M. Brydson ◽  
G. Chauplannaz ◽  
...  
Keyword(s):  
Recessive Inheritance ◽  
Congenital Myasthenic Syndromes ◽  
Slow Channel ◽  
Myasthenic Syndromes ◽  
Variable Penetrance

scholarly journals Nanophthalmos: A Review of the Clinical Spectrum and Genetics

2018 ◽  
Vol 2018 ◽  
pp. 1-9 ◽  
Author(s):  
Pedro C. Carricondo ◽  
Thais Andrade ◽  
Lev Prasov ◽  
Bernadete M. Ayres ◽  
Sayoko E. Moroi
Keyword(s):  
Autosomal Dominant ◽  
Perioperative Complications ◽  
Angle Closure Glaucoma ◽  
Clinical Spectrum ◽  
High Rate ◽  
Angle Closure ◽  
Recessive Inheritance ◽  
Familial Disorder ◽  
Definition Of

Nanophthalmos is a clinical spectrum of disorders with a phenotypically small but structurally normal eye. These disorders present significant clinical challenges to ophthalmologists due to a high rate of secondary angle-closure glaucoma, spontaneous choroidal effusions, and perioperative complications with cataract and retinal surgeries. Nanophthalmos may present as a sporadic or familial disorder, with autosomal-dominant or recessive inheritance. To date, five genes (i.e.,MFRP,TMEM98,PRSS56,BEST1, andCRB1) and two loci have been implicated in familial forms of nanophthalmos. Here, we review the definition of nanophthalmos, the clinical and pathogenic features of the condition, and the genetics of this disorder.

The Clinical Spectrum of Anaphylaxis in North-West England

1996 ◽  
Vol 26 (12) ◽  
pp. 1364-1370 ◽  
Author(s):  
R. S. H. Pumphrey ◽  
S. J. Stanworth
Keyword(s):  
Clinical Spectrum ◽  
North West

Clinical spectrum of mastocytosis (urticaria pigmentosa) in man

1967 ◽  
Vol 96 (4) ◽  
pp. 364-366 ◽  
Author(s):  
W. R. Nickel
Keyword(s):  
Clinical Spectrum ◽  
Urticaria Pigmentosa

The clinical spectrum of TSH-expressing pituitary adenomas

2013 ◽  
Vol 121 (10) ◽  
Author(s):  
MA Kirkman ◽  
Z Jaunmuktane ◽  
S Brandner ◽  
A Khan ◽  
M Powell ◽  
...  
Keyword(s):  
Pituitary Adenomas ◽  
Clinical Spectrum

New Families with Hereditary Hemorrhagic Trait due to Deficiency of Fibrin Stabilizing Factor (F. XIII)

1968 ◽  
Vol 20 (03/04) ◽  
pp. 534-541 ◽  
Author(s):  
O Egeberg
Keyword(s):  
Factor Xiii ◽  
Family Members ◽  
Recessive Inheritance ◽  
Factor Xiii Deficiency ◽  
History Of ◽  
Congenital Factor

SummarySevere hemorrhagic disorder due to congenital factor XIII deficiency is described in two unrelated Norwegian girls.Plasma cephalin time was for both patients extraordinarily short during episodes of bleeding and hematomas. No such hyperactivity reaction was demonstrable in unaffected condition some months later.Estimations of blood factor XIII levels revealed a partial defect in the parents of both children, and also in some other family members, consistent with an autosomal incompletely recessive inheritance of the defect. Some of the presumptive heterozygotes had a history of light bleeding phenomenons; whether this was related to their partial lack of factor XIII is so far uncertain.

OCCIPITAL LOBE EPILEPSY IN CHILDREN: THE CLINICAL SPECTRUM AND OUTCOME

2006 ◽  
Vol 37 (S 1) ◽  
Author(s):  
M Connolly ◽  
R Schukla ◽  
R Gatrill
Keyword(s):  
Occipital Lobe ◽  
Clinical Spectrum ◽  
Occipital Lobe Epilepsy

Pelizaeus Merzbacher phenotype with epilepsy and autosomal recessive inheritance in two siblings

2006 ◽  
Vol 37 (03) ◽  
Author(s):  
U Gaiser ◽  
J Neuberger ◽  
E Regel ◽  
R Emmert ◽  
M Ries
Keyword(s):  
Autosomal Recessive ◽  
Autosomal Recessive Inheritance ◽  
Recessive Inheritance

TYPICAL CASES OF ISOLATED GROWTH HORMONE DEFICIENCY WITH AUTOSOMAL RECESSIVE INHERITANCE

1970 ◽  
Vol 63 (4) ◽  
pp. 618-624 ◽  
Author(s):  
Y. Kumahara ◽  
Y. Okada ◽  
K. Miyai ◽  
H. Iwatsubo
Keyword(s):  
Growth Hormone ◽  
Growth Hormone Deficiency ◽  
Autosomal Recessive ◽  
Autosomal Recessive Inheritance ◽  
Adult Subject ◽  
Hormone Deficiency ◽  
Recessive Inheritance ◽  
Arginine Infusion ◽  
Isolated Growth Hormone Deficiency ◽  
Male Dwarf

ABSTRACT A 25-year-old male dwarf and his sister, a 31-year-old woman were investigated. Their respective heights were 114 and 97 cm with proportional statures. Their bone ages were that found in the adult subject. Thyroid functions and metyrapone test were normal and the total urinary gonadotrophin was determined in both cases. HGH secretion was not stimulated by insulin-induced hypoglycaemia, arginine infusion or exercise. Their parents and six other siblings were normal in height. The two patients were therefore assumed to be suffering from an isolated growth hormone deficiency with autosomal recessive inheritance.

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