Detalhe da pesquisa
1.
Long-term comparative effectiveness of pegvaliase versus medical nutrition therapy with and without sapropterin in adults with phenylketonuria.
Mol Genet Metab
; 141(1): 108114, 2024 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-38142628
2.
Clinical effect and safety profile of pegzilarginase in patients with arginase 1 deficiency.
J Inherit Metab Dis
; 44(4): 847-856, 2021 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-33325055
3.
Three novel GJB2 (connexin 26) variants associated with autosomal dominant syndromic and nonsyndromic hearing loss.
Am J Med Genet A
; 176(4): 945-950, 2018 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-29575629
4.
Maternal phenylketonuria syndrome: studies in mice suggest a potential approach to a continuing problem.
Pediatr Res
; 83(4): 889-896, 2018 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-29278642
5.
Pegvaliase for the treatment of phenylketonuria: Final results of a long-term phase 3 clinical trial program.
Mol Genet Metab Rep
; 39: 101084, 2024 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-38694233
6.
TFAP2A mutations result in branchio-oculo-facial syndrome.
Am J Hum Genet
; 82(5): 1171-7, 2008 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-18423521
7.
Bilateral anterior segment dysgenesis and persistent fetal vasculature associated with terminal 10q26 deletion.
J AAPOS
; 25(5): 309-311, 2021 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-34582953
8.
Chromosome 8p23.1 deletions as a cause of complex congenital heart defects and diaphragmatic hernia.
Am J Med Genet A
; 149A(8): 1661-77, 2009 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-19606479
9.
A pathogenic role for germline PTEN variants which accumulate into the nucleus.
Eur J Hum Genet
; 26(8): 1180-1187, 2018 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-29706633
10.
Chromosome painting in the manatee supports Afrotheria and Paenungulata.
BMC Evol Biol
; 7: 6, 2007 Jan 23.
Artigo
em Inglês
| MEDLINE | ID: mdl-17244368
11.
Molecular cytogenetic characterization of two small supernumerary marker chromosomes derived from chromosome 19.
Am J Med Genet A
; 149A(2): 262-5, 2009 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-19133694
12.
Neonatal diabetes mellitus and congenital diaphragmatic hernia: coincidence or concurrent etiology?
Int J Pediatr Endocrinol
; 2012(1): 21, 2012 Jul 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-22781086
13.
Diagnosis of an early precursor-B-ALL presenting with hypereosinophilia using FISH on immunomagnetically selected CD19+ cells.
Clin Adv Hematol Oncol
; 3(1): 62-4, 2005 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-16166969
14.
Facial dysmorphism and digit anomalies in three siblings with severe developmental delay.
Clin Dysmorphol
; 20(2): 92-94, 2011 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-21383553
15.
Fine mapping of chromosome 17 translocation breakpoints > or = 900 Kb upstream of SOX9 in acampomelic campomelic dysplasia and a mild, familial skeletal dysplasia.
Am J Hum Genet
; 76(4): 663-71, 2005 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-15717285
16.
Concurrence of fragile X syndrome and 47, XYY in an individual with a Prader-Willi-like phenotype.
Am J Med Genet A
; 116A(2): 176-8, 2003 Jan 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-12494438
17.
Unexpected death and critical illness in Prader-Willi syndrome: report of ten individuals.
Am J Med Genet A
; 124A(2): 158-64, 2004 Jan 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-14699614
18.
A molecular diagnosis of hyperparathyroidism-jaw tumor syndrome in an adolescent with recurrent kidney stones.
J Pediatr
; 145(4): 567, 2004 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-15480389