๐”– Bobbio Scriptorium
โœฆ   LIBER   โœฆ

Mosaicism in Marshall syndrome

โœ Scribed by Leena Ala-Kokko; Alan L. Shanske


Publisher
John Wiley and Sons
Year
2009
Tongue
English
Weight
139 KB
Volume
149A
Category
Article
ISSN
1552-4825

No coin nor oath required. For personal study only.


๐Ÿ“œ SIMILAR VOLUMES


Marshall syndrome
โœ Stratton, Robert F. ;Lee, Brendan ;Ramirez, Francesco ๐Ÿ“‚ Article ๐Ÿ“… 1991 ๐Ÿ› John Wiley and Sons ๐ŸŒ English โš– 498 KB
Mosaicism in Prader-Willi syndrome
โœ Nicholls, Robert D. ๐Ÿ“‚ Article ๐Ÿ“… 2000 ๐Ÿ› John Wiley and Sons ๐ŸŒ English โš– 4 KB ๐Ÿ‘ 2 views

Several recent studies have suggested the presence of mosaicism for a deletion, detected by fluorescence in situ hybridization (FISH), within chromosome 15q11-q13 in Prader-Willi syndrome (PWS) [Mowery-Rushton et al., 1996;Malzac et al., 1998;Golden et al., 1999]. However, the evidence supporting mo

Osseous fragility in Marshall-Smith synd
โœ Diab, Mohammad ;Raff, Michael ;Gunther, Daniel F. ๐Ÿ“‚ Article ๐Ÿ“… 2003 ๐Ÿ› John Wiley and Sons ๐ŸŒ English โš– 189 KB ๐Ÿ‘ 1 views
Mosaicism in Pallister i(12p) syndrome
โœ Wenger, Sharon L. ;Boone, Leslie Y. ;Steele, Mark W. ๐Ÿ“‚ Article ๐Ÿ“… 1990 ๐Ÿ› John Wiley and Sons ๐ŸŒ English โš– 254 KB
Trisomy 14 mosaicism syndrome
โœ Lipson, Mark H. ;Opitz, John M. ;Reynolds, James F. ๐Ÿ“‚ Article ๐Ÿ“… 1987 ๐Ÿ› John Wiley and Sons ๐ŸŒ English โš– 254 KB ๐Ÿ‘ 1 views
Genetic counseling in Angelman syndrome:
โœ Stalker, Heather J.; Williams, Charles A.; Wagstaff, Joseph ๐Ÿ“‚ Article ๐Ÿ“… 1998 ๐Ÿ› John Wiley and Sons ๐ŸŒ English โš– 2 KB ๐Ÿ‘ 2 views

Recently we published a review about genetic counseling and the provision of risk information in Angelman syndrome (AS) ]. However, since then, new evidence indicates that gonadal mosaicism may affect recurrence risk in the subset of AS patients who are affected as the result of UBE3A gene mutations