Search details
1.
Exonic deletions in AUTS2 cause a syndromic form of intellectual disability and suggest a critical role for the C terminus.
Am J Hum Genet
; 92(2): 210-20, 2013 Feb 07.
Article
in English
| MEDLINE | ID: mdl-23332918
2.
Assessment of 2q23.1 microdeletion syndrome implicates MBD5 as a single causal locus of intellectual disability, epilepsy, and autism spectrum disorder.
Am J Hum Genet
; 89(4): 551-63, 2011 Oct 07.
Article
in English
| MEDLINE | ID: mdl-21981781
3.
Identification of a recurrent microdeletion at 17q23.1q23.2 flanked by segmental duplications associated with heart defects and limb abnormalities.
Am J Hum Genet
; 86(3): 454-61, 2010 Mar 12.
Article
in English
| MEDLINE | ID: mdl-20206336
4.
12q14 microdeletion associated with HMGA2 gene disruption and growth restriction.
Am J Med Genet A
; 158A(11): 2925-30, 2012 Nov.
Article
in English
| MEDLINE | ID: mdl-22987822
5.
Microarray comparative genomic hybridization and cytogenetic characterization of tissue-specific mosaicism in three patients.
Am J Med Genet A
; 158A(8): 1924-33, 2012 Aug.
Article
in English
| MEDLINE | ID: mdl-22786685
6.
Unexpected detection of dystrophin gene deletions by array comparative genomic hybridization.
Am J Med Genet A
; 152A(9): 2301-7, 2010 Sep.
Article
in English
| MEDLINE | ID: mdl-20683981
7.
Variability in pathogenicity prediction programs: impact on clinical diagnostics.
Mol Genet Genomic Med
; 3(2): 99-110, 2015 Mar.
Article
in English
| MEDLINE | ID: mdl-25802880
8.
Atypical breakpoint in a t(6;17) translocation case of acampomelic campomelic dysplasia.
Eur J Med Genet
; 57(7): 315-8, 2014 Jul.
Article
in English
| MEDLINE | ID: mdl-24821304
9.
Autosomal dominant pseudohypoaldosteronism type 1 in an infant with salt wasting crisis associated with urinary tract infection and obstructive uropathy.
Case Rep Endocrinol
; 2013: 524647, 2013.
Article
in English
| MEDLINE | ID: mdl-24455331
10.
A case of an atypically large proximal 15q deletion as cause for Prader-Willi syndrome arising from a de novo unbalanced translocation.
Eur J Med Genet
; 56(9): 510-4, 2013 Sep.
Article
in English
| MEDLINE | ID: mdl-23856564
11.
Multigeneration family with short stature, developmental delay, and dysmorphic features due to 4q27-q28.1 microdeletion.
Eur J Med Genet
; 56(9): 521-5, 2013 Sep.
Article
in English
| MEDLINE | ID: mdl-23895773
12.
MCPH1 deletion in a newborn with severe microcephaly and premature chromosome condensation.
Eur J Med Genet
; 56(11): 609-13, 2013 Nov.
Article
in English
| MEDLINE | ID: mdl-24080358
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