Warning: Undefined array key "mm" in /www/wwwroot/www.ai-bt.com/si.php on line 10 Deprecated: trim(): Passing null to parameter #1 ($string) of type string is deprecated in /www/wwwroot/www.ai-bt.com/si.php on line 10 Vertebral defects in patients with Peters plus syndrome and mutations in B3GALTL.

× No keyword cloud information.

5 in total

1. Novel B3GALTL mutations in classic Peters plus syndrome and lack of mutations in a large cohort of patients with similar phenotypes.

Authors: E Weh; L M Reis; R C Tyler; D Bick; W J Rhead; S Wallace; T L McGregor; S K Dills; M-C Chao; J C Murray; E V Semina
Journal: Clin Genet Date: 2013-09-17 Impact factor: 4.438

Review 2. Cardiac complications of congenital disorders of glycosylation (CDG): a systematic review of the literature.

Authors: D Marques-da-Silva; R Francisco; D Webster; V Dos Reis Ferreira; J Jaeken; T Pulinilkunnil
Journal: J Inherit Metab Dis Date: 2017-07-19 Impact factor: 4.982

3. Functional characterization of zebrafish orthologs of the human Beta 3-Glucosyltransferase B3GLCT gene mutated in Peters Plus Syndrome.

Authors: Eric Weh; Hideyuki Takeuchi; Sanaa Muheisen; Robert S Haltiwanger; Elena V Semina
Journal: PLoS One Date: 2017-09-19 Impact factor: 3.240

4. Peter Plus Syndrome: A Neurosurgeon's Perspective.

Authors: Deepak Khatri; Jaskaran S Gosal; Kuntal K Das; Kamlesh S Bhaisora
Journal: J Pediatr Neurosci Date: 2019-09-27

5. Absence of NR2E1 mutations in patients with aniridia.

Authors: Ximena Corso-Díaz; Adrienne E Borrie; Russell Bonaguro; Johanna M Schuetz; Thomas Rosenberg; Hanne Jensen; Brian P Brooks; Ian M Macdonald; Francesca Pasutto; Michael A Walter; Karen Grønskov; Angela Brooks-Wilson; Elizabeth M Simpson
Journal: Mol Vis Date: 2012-11-22 Impact factor: 2.367

5 in total