scholarly journals Phenotypic characterization of an older adult male with late-onset epilepsy and a novel mutation in ASXL3 shows overlap with the associated Bainbridge-Ropers syndrome

2018 ◽  
Vol Volume 14 ◽  
pp. 867-870 ◽  
Author(s):  
Willem Verhoeven ◽  
Jos Egger ◽  
Emmy Räkers ◽  
Arjen van Erkelens ◽  
Rolph Pfundt ◽  
...  
Keyword(s):  
Older Adult ◽  
Adult Male ◽  
Late Onset ◽  
Novel Mutation ◽  
Phenotypic Characterization

Phenotypic characterization of late onset cardiac amyloidosis caused by the transthyretin mutation TTRA45S, p.(Ala65Ser)

Amyloid ◽  
2017 ◽  
Vol 24 (1) ◽  
pp. 70-71
Author(s):  
Katrine M. Müllertz ◽  
Steen Baerentzen ◽  
Henrik K. Jensen ◽  
Henning Mølgaard
Keyword(s):  
Cardiac Amyloidosis ◽  
Late Onset ◽  
Phenotypic Characterization

Congenital Hypothyroidism and Late-Onset Goiter: Identification and Characterization of a Novel Mutation in the Sodium/Iodide Symporter of the Proband and Family Members

Thyroid ◽  
2009 ◽  
Vol 19 (12) ◽  
pp. 1419-1425 ◽  
Author(s):  
Lucia Montanelli ◽  
Patrizia Agretti ◽  
Giuseppina de Marco ◽  
Brunella Bagattini ◽  
Claudia Ceccarelli ◽  
...  
Keyword(s):  
Congenital Hypothyroidism ◽  
Sodium Iodide ◽  
Late Onset ◽  
Novel Mutation ◽  
Family Members ◽  
Sodium Iodide Symporter ◽  
Identification And Characterization

Comprehensive phenotypic characterization of ABCB4 deficient mice reveals systemic effects of spontaneous biliary fibrosis

2009 ◽  
Vol 47 (01) ◽  
Author(s):  
K Hochrath ◽  
S Hillebrandt ◽  
F Lammert ◽  
B Rathkolb ◽  
H Fuchs ◽  
...  
Keyword(s):  
Phenotypic Characterization ◽  
Systemic Effects ◽  
Deficient Mice

Characterization of the Original Christmas Disease Mutation (Cysteine 206 → Serine): From Clinical Recognition to Molecular Pathogenesis

1992 ◽  
Vol 67 (01) ◽  
pp. 063-065 ◽  
Author(s):  
Sherryl A M Taylor ◽  
Jacalyn Duffin ◽  
Cherie Cameron ◽  
Jerome Teitel ◽  
Bernadette Garvey ◽  
...  
Keyword(s):  
Nucleotide Substitution ◽  
Novel Mutation ◽  
Factor Ix ◽  
Causative Mutation ◽  
Coding Region ◽  
Body Of Knowledge ◽  
Polymerase Chain ◽  
Splice Junctions

SummaryChristmas disease was first reported as a distinct clinical entity in two manuscripts published in 1952 (1, 2). The eponym associated with this disorder, is the surname of the first patient examined in detail and reported by Biggs and colleagues in a paper describing the clinical and laboratory features of seven affected individuals (3). This patient has severe factor IX coagulant deficiency (less than 0.01 units/ml) and no detectable circulating factor IX antigen (less than 0.01 units/ml). Coding sequence and splice junctions of the factor IX gene from this patient have been amplified in vitro through the polymerase chain reaction (PCR). One nucleotide substitution was identified at nucleotide 30,070 where a guanine was replaced by a cytosine. This mutation alters the amino acid encoded at position 206 in the factor IX protein from cysteine to serine. The non conservative nature of this substitution, the absence of this change in more than 200 previously sequenced factor IX genes and the fact that the remainder of the coding region of this gene was normal, all provide strong circumstantial evidence in favour of this change being the causative mutation in this patient. The molecular characterization of this novel mutation in the index case of Christmas disease, contributes to the rapidly expanding body of knowledge pertaining to Christmas disease pathogenesis.

Phenotypic Characterization of a Family With An In-frame Deletion in the DMD Gene and Variable Penetrance

2018 ◽  
Vol 18 (4) ◽  
pp. 246-251 ◽  
Author(s):  
Inmaculada Perez-Sanchez ◽  
Maria Sabater-Molina ◽  
Maria Elisa Nicolas Rocamora ◽  
Guillermo Glover ◽  
Fuensanta Escudero ◽  
...  
Keyword(s):  
Phenotypic Characterization ◽  
Dmd Gene ◽  
Variable Penetrance
Sign in / Sign up

Export Citation Format

Share Document