Detalhe da pesquisa
1.
Toward clinical and molecular dissection of frontonasal dysplasia with facial skin polyps: From Pai syndrome to differential diagnosis through a series of 27 patients.
Am J Med Genet A
; 188(7): 2036-2047, 2022 07.
Artigo
Inglês
| MEDLINE | ID: mdl-35445792
2.
Second report of RING finger protein 113A (RNF113A) involvement in a Mendelian disorder.
Am J Med Genet A
; 182(3): 565-569, 2020 03.
Artigo
Inglês
| MEDLINE | ID: mdl-31793730
3.
The oculoauriculofrontonasal syndrome: Further clinical characterization and additional evidence suggesting a nontraditional mode of inheritance.
Am J Med Genet A
; 176(12): 2740-2750, 2018 12.
Artigo
Inglês
| MEDLINE | ID: mdl-30548201
4.
Prenatal diagnosis of focal dermal hypoplasia: Report of three fetuses and review of the literature.
Am J Med Genet A
; 173(2): 479-486, 2017 Feb.
Artigo
Inglês
| MEDLINE | ID: mdl-27623003
5.
Cobblestone lissencephaly: neuropathological subtypes and correlations with genes of dystroglycanopathies.
Brain
; 135(Pt 2): 469-82, 2012 Feb.
Artigo
Inglês
| MEDLINE | ID: mdl-22323514
6.
Spectrum of mutations in the renin-angiotensin system genes in autosomal recessive renal tubular dysgenesis.
Hum Mutat
; 33(2): 316-26, 2012 Feb.
Artigo
Inglês
| MEDLINE | ID: mdl-22095942
7.
Prenatal diagnosis of CHARGE syndrome by identification of a novel CHD7 mutation in a previously unaffected family.
Prenat Diagn
; 32(7): 692-4, 2012 Jul.
Artigo
Inglês
| MEDLINE | ID: mdl-22517486
8.
Fatal Myopericarditis Following an Influenza A (H3N2) Infection.
Am J Case Rep
; 19: 540-544, 2018 May 08.
Artigo
Inglês
| MEDLINE | ID: mdl-29735962
9.
Phenol sulfotransferase SULT1A1*2 allele and enhanced risk of upper urinary tract urothelial cell carcinoma.
Cancer Epidemiol Biomarkers Prev
; 16(11): 2500-3, 2007 Nov.
Artigo
Inglês
| MEDLINE | ID: mdl-18006944
10.
Usefulness of repeated fine-needle cytology in the follow-up of non-operated thyroid nodules.
Eur J Endocrinol
; 156(3): 303-8, 2007 Mar.
Artigo
Inglês
| MEDLINE | ID: mdl-17322489
11.
Duodenopancreatectomy for cystic dystrophy in heterotopic pancreas of the duodenal wall.
Gastroenterol Clin Biol
; 30(1): 24-8, 2006 Jan.
Artigo
Inglês
| MEDLINE | ID: mdl-16514378
12.
Histopathology of prostate tissue after vascular-targeted photodynamic therapy for localized prostate cancer.
Virchows Arch
; 463(4): 547-52, 2013 Oct.
Artigo
Inglês
| MEDLINE | ID: mdl-23948957
13.
An elevated level of TSH might be predictive of differentiated thyroid cancer.
Ann Endocrinol (Paris)
; 72(6): 513-21, 2011 Dec.
Artigo
Inglês
| MEDLINE | ID: mdl-22115282
14.
Increasing the number of thyroid lesions classes in microarray analysis improves the relevance of diagnostic markers.
PLoS One
; 4(10): e7632, 2009 Oct 29.
Artigo
Inglês
| MEDLINE | ID: mdl-19893615
15.
Prenatal diagnosis of primary anophthalmia with a 3q27 interstitial deletion involving SOX2.
Prenat Diagn
; 24(10): 828-32, 2004 Oct.
Artigo
Inglês
| MEDLINE | ID: mdl-15503273