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1.
A novel MYT1L mutation in a boy with syndromic obesity: Case report and literature review.
Obes Res Clin Pract
; 15(2): 124-132, 2021.
Artículo
en Inglés
| MEDLINE | ID: mdl-33622623
2.
Extending the phenotype of monosomy 1p36 syndrome and mapping of a critical region for obesity and hyperphagia.
Am J Med Genet A
; 152A(1): 102-10, 2010 Jan.
Artículo
en Inglés
| MEDLINE | ID: mdl-20034100
3.
Barriers and Considerations for Diagnosing Rare Diseases in Indigenous Populations.
Front Pediatr
; 8: 579924, 2020.
Artículo
en Inglés
| MEDLINE | ID: mdl-33381478
4.
Further delineation of nonhomologous-based recombination and evidence for subtelomeric segmental duplications in 1p36 rearrangements.
Hum Genet
; 125(5-6): 551-63, 2009 Jun.
Artículo
en Inglés
| MEDLINE | ID: mdl-19271239
5.
Prader-Willi-like phenotype: investigation of 1p36 deletion in 41 patients with delayed psychomotor development, hypotonia, obesity and/or hyperphagia, learning disabilities and behavioral problems.
Eur J Med Genet
; 49(6): 451-60, 2006.
Artículo
en Inglés
| MEDLINE | ID: mdl-16564757
6.
Molecular cytogenetic characterization of an inherited maternal duplication 20p11.21p13 associated with a small 20p11.21 deletion.
Am J Med Genet A
; 152A(12): 3197-202, 2010 Dec.
Artículo
en Inglés
| MEDLINE | ID: mdl-21108409
7.
Two New Cases of 1p21.3 Deletions and an Unbalanced Translocation t(8;12) among Individuals with Syndromic Obesity.
Mol Syndromol
; 6(2): 63-70, 2015 Jul.
Artículo
en Inglés
| MEDLINE | ID: mdl-26279650
8.
Investigation of selected genomic deletions and duplications in a cohort of 338 patients presenting with syndromic obesity by multiplex ligation-dependent probe amplification using synthetic probes.
Mol Cytogenet
; 7(1): 75, 2014.
Artículo
en Inglés
| MEDLINE | ID: mdl-25411582
9.
Does germ-line deletion of the PIP gene constitute a widespread risk for cancer?
Eur J Hum Genet
; 22(3): 307-9, 2014 Mar.
Artículo
en Inglés
| MEDLINE | ID: mdl-23778870
10.
An inherited atypical 1 Mb 22q11.2 deletion within the DGS/VCFS 3 Mb region in a child with obesity and aggressive behavior.
Am J Med Genet A
; 143A(16): 1928-32, 2007 Aug 15.
Artículo
en Inglés
| MEDLINE | ID: mdl-17618498
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