Detalhe da pesquisa
1.
Craniosynostosis in molecularly diagnosed Kabuki syndrome: Prevalence and clinical implications.
Am J Med Genet A
; 194(2): 268-278, 2024 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-37815018
2.
Breakpoints in complex chromosomal rearrangements correspond to transposase-accessible regions of DNA from mature sperm.
Hum Genet
; 142(10): 1451-1460, 2023 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-37615740
3.
Clinical application of long-read nanopore sequencing in a preimplantation genetic testing pre-clinical workup to identify the junction for complex Xq chromosome rearrangement-related disease.
Prenat Diagn
; 43(3): 304-313, 2023 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-36797813
4.
A case of a parthenogenetic 46,XX/46,XY chimera presenting ambiguous genitalia.
J Hum Genet
; 65(8): 705-709, 2020 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-32277176
5.
PIEZO2 deficiency is a recognizable arthrogryposis syndrome: A new case and literature review.
Am J Med Genet A
; 179(6): 948-957, 2019 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-30941898
6.
Clinical courses of children with trisomy 13 receiving intensive neonatal and pediatric treatment.
Am J Med Genet A
; 176(9): 1941-1949, 2018 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-30152146
7.
CTCF deletion syndrome: clinical features and epigenetic delineation.
J Med Genet
; 54(12): 836-842, 2017 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-28848059
8.
Peripartum Iliac Arterial Aneurysm and Rupture in a Patient with Vascular Ehlers-Danlos Syndrome Diagnosed by Next-Generation Sequencing.
Int Heart J
; 59(5): 1180-1185, 2018 Sep 26.
Artigo
em Inglês
| MEDLINE | ID: mdl-30158381
9.
Visualization of the spatial positioning of the SNRPN, UBE3A, and GABRB3 genes in the normal human nucleus by three-color 3D fluorescence in situ hybridization.
Chromosome Res
; 20(6): 659-72, 2012 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-22801776
10.
Maple syrup urine disease due to a paracentric inversion of chr 19 that disrupts BCKDHA: A case report.
JIMD Rep
; 63(6): 575-580, 2022 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-36341163
11.
A Turner syndrome case associated with dic(Y;22).
Mol Cytogenet
; 14(1): 34, 2021 Jul 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-34238329
12.
Loss-of-function mutations of CHST14 in a new type of Ehlers-Danlos syndrome.
Hum Mutat
; 31(8): 966-74, 2010 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-20533528
13.
Genital abnormalities in Pallister-Hall syndrome: Report of two patients and review of the literature.
Am J Med Genet A
; 152A(12): 3143-7, 2010 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-21108399
14.
Cold-induced sweating syndrome with neonatal features of Crisponi syndrome: longitudinal observation of a patient homozygous for a CRLF1 mutation.
Am J Med Genet A
; 152A(3): 764-9, 2010 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-20186812
15.
A new Ehlers-Danlos syndrome with craniofacial characteristics, multiple congenital contractures, progressive joint and skin laxity, and multisystem fragility-related manifestations.
Am J Med Genet A
; 152A(6): 1333-46, 2010 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-20503305
16.
Progressive aortic root and pulmonary artery aneurysms in a neonate with Loeys-Dietz syndrome type 1B.
Am J Med Genet A
; 152A(2): 417-21, 2010 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-20101701
17.
Ex Vivo Evaluation of Gingival Ablation with Various Laser Systems and Electroscalpel.
Photobiomodul Photomed Laser Surg
; 38(6): 364-373, 2020 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-32175812
18.
A female patient with retinoblastoma and severe intellectual disability carrying an X;13 balanced translocation without rearrangement in the RB1 gene: a case report.
BMC Med Genomics
; 12(1): 182, 2019 12 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-31806026
19.
Exome-First Approach in Fetal Akinesia Reveals Chromosome 1p36 Deletion Syndrome.
Case Rep Obstet Gynecol
; 2019: 6753184, 2019.
Artigo
em Inglês
| MEDLINE | ID: mdl-31662930
20.
Bilateral perisylvian polymicrogyria, periventricular nodular heterotopia, and left ventricular noncompaction in a girl with 10.5-11.1 Mb terminal deletion of 1p36.
Am J Med Genet A
; 146A(22): 2891-7, 2008 Nov 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-18925681