Detalhe da pesquisa
1.
Biallelic GTF2IRD1 variants in brothers with profound neurodevelopmental disorder: A possible novel disorder involving a critical gene for Williams syndrome.
Am J Med Genet A
; 191(2): 332-337, 2023 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-36308390
2.
Siblings with profound connective tissue disease: First report of biallelic TGFBR1-related Loeys-Dietz syndrome.
Am J Med Genet A
; 191(3): 786-793, 2023 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-36584339
3.
Review of the Pathologic Characteristics in Myhre Syndrome: Gain-of-Function Pathogenic Variants in SMAD4 cause a Multisystem Fibroproliferative Response.
Pediatr Dev Pathol
; 25(6): 611-623, 2022.
Artigo
em Inglês
| MEDLINE | ID: mdl-36120950
4.
CHEDDA syndrome is an underrecognized neurodevelopmental disorder with a highly restricted ATN1 mutation spectrum.
Clin Genet
; 100(4): 468-477, 2021 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-34212383
5.
Interdisciplinary care of children with trisomy 13 and 18.
Am J Med Genet A
; 185(3): 966-977, 2021 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-33381915
6.
Gain-of-function pathogenic variants in SMAD4 are associated with neoplasia in Myhre syndrome.
Am J Med Genet A
; 182(2): 328-337, 2020 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-31837202
7.
Patient with anomalous skin pigmentation expands the phenotype of ARID2 loss-of-function disorder, a SWI/SNF-related intellectual disability.
Am J Med Genet A
; 179(5): 808-812, 2019 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-30838730
8.
PIGQ glycosylphosphatidylinositol-anchored protein deficiency: Characterizing the phenotype.
Am J Med Genet A
; 179(7): 1270-1275, 2019 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-31148362
9.
Hb Gibbon [ß124(H2)ProâThr (HBB: c.373C>A, p.P125T)], an Asymptomatic Novel Hemoglobin Variant Detected by Newborn Screening.
Hemoglobin
; 43(3): 207-209, 2019 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-31387435
10.
Newly described recessive MYH11 disorder with clinical overlap of Multisystemic smooth muscle dysfunction and Megacystis microcolon hypoperistalsis syndromes.
Am J Med Genet A
; 176(4): 1011-1014, 2018 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-29575632
11.
The first patient with tandem duplication of 6q14q16: Molecular and phenotypic characterization.
Am J Med Genet A
; 170(9): 2416-20, 2016 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-27338032
12.
Assessing the utility of confirmatory studies following identification of large-scale genomic imbalances by microarray.
Genet Med
; 17(11): 875-9, 2015 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-25590977
13.
Phenotypic modifications of patients with full chromosome aneuploidies and concurrent suspected or confirmed second diagnoses.
Am J Med Genet A
; 167A(9): 2168-75, 2015 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-25914130
14.
Myhre syndrome: Clinical features and restrictive cardiopulmonary complications.
Am J Med Genet A
; 167A(12): 2893-901, 2015 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-26420300
15.
Duplication of 20qter and deletion of 20pter due to paternal pericentric inversion: patient report and review of 20qter duplications.
Am J Med Genet A
; 164A(8): 2020-4, 2014 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-24954807
16.
Occurrence of nephroblastomatosis with dup(18)(q11.2-q23) implicates trisomy 18 tumor screening protocol in select patients with 18q duplication.
Am J Med Genet A
; 164A(4): 1079-82, 2014 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-24596125
17.
Expanding the phenotypic spectrum of NAA10-related neurodevelopmental syndrome and NAA15-related neurodevelopmental syndrome.
Eur J Hum Genet
; 31(7): 824-833, 2023 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-37130971
18.
Characterization of six novel patients with MECP2 duplications due to unbalanced rearrangements of the X chromosome.
Am J Med Genet A
; 158A(6): 1285-91, 2012 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-22581587
19.
The QT Interval in Patients With the Turner Syndrome.
Am J Cardiol
; 140: 118-121, 2021 02 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-33144168
20.
Vascular dissection in women with Turner syndrome.
Int J Cardiol
; 325: 127-131, 2021 02 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-33045278