Detalhe da pesquisa
1.
Are protocol graft biopsies after pediatric liver transplantation useful? Experience in a single center over 20 years.
Clin Transplant
; 37(2): e14898, 2023 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-36585804
2.
Bardet-Biedl syndrome: Antenatal presentation of forty-five fetuses with biallelic pathogenic variants in known Bardet-Biedl syndrome genes.
Clin Genet
; 95(3): 384-397, 2019 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-30614526
3.
Hepatocyte nuclear factor 1ß controls nephron tubular development.
Development
; 140(4): 886-96, 2013 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-23362349
4.
Neonatal hemochromatosis: diagnostic work-up based on a series of 56 cases of fetal death and neonatal liver failure.
J Pediatr
; 166(1): 66-73, 2015 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-25444000
5.
Microscopic and ultrastructural features in Wolcott-Rallison syndrome, a permanent neonatal diabetes mellitus: about two autopsy cases.
Pediatr Diabetes
; 16(7): 510-20, 2015 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-25131821
6.
Radiographic features of the skeleton in disorders of post-squalene cholesterol biosynthesis.
Pediatr Radiol
; 45(7): 965-76, 2015 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-25646736
7.
Fetal phenotype associated with the 22q11 deletion.
Am J Med Genet A
; 164A(11): 2724-31, 2014 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-25111715
8.
Transient neonatal liver disease after maternal antenatal intravenous Ig infusions in gestational alloimmune liver disease associated with neonatal haemochromatosis.
J Pediatr Gastroenterol Nutr
; 59(5): 629-35, 2014 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-25079484
9.
Mutations in genes in the renin-angiotensin system are associated with autosomal recessive renal tubular dysgenesis.
Nat Genet
; 37(9): 964-8, 2005 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-16116425
10.
Long-term critical issues in pediatric renal transplant recipients: a single-center experience.
Transpl Int
; 26(2): 154-61, 2013 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-23227963
11.
NEK1 and DYNC2H1 are both involved in short rib polydactyly Majewski type but not in Beemer Langer cases.
J Med Genet
; 49(4): 227-33, 2012 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-22499340
12.
Immune dysregulation, polyendocrinopathy, enteropathy, X-linked syndrome and recurrent intrauterine fetal death.
Lancet
; 385(9982): 2120, 2015 May 23.
Artigo
em Inglês
| MEDLINE | ID: mdl-26009232
13.
Recurrence of a dysgerminoma in Frasier syndrome.
Pediatr Transplant
; 15(3): e53-5, 2011 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-20408995
14.
BBS10 mutations are common in 'Meckel'-type cystic kidneys.
J Med Genet
; 47(12): 848-52, 2010 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-20805367
15.
Genotype-phenotype correlations in fetuses and neonates with autosomal recessive polycystic kidney disease.
Kidney Int
; 77(4): 350-8, 2010 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-19940839
16.
Should PMM2-deficiency (CDG Ia) be searched in every case of unexplained hydrops fetalis?
Mol Genet Metab
; 101(2-3): 253-7, 2010.
Artigo
em Inglês
| MEDLINE | ID: mdl-20638314
17.
Occurrence of inflammatory bowel disease during treatment of juvenile idiopathic arthritis with etanercept: a French retrospective study.
Rheumatology (Oxford)
; 49(9): 1694-8, 2010 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-20472717
18.
Malignancy incidence after renal transplantation in children: a 20-year single-centre experience.
Nephrol Dial Transplant
; 25(2): 611-6, 2010 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-19820249
19.
Severe dysphagia in children with eosinophilic esophagitis and esophageal stricture: an indication for balloon dilation?
J Pediatr Gastroenterol Nutr
; 50(5): 516-20, 2010 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-19934772
20.
CC2D2A mutations in Meckel and Joubert syndromes indicate a genotype-phenotype correlation.
Hum Mutat
; 30(11): 1574-82, 2009 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-19777577