Detalles de la búsqueda
1.
Project Baby Bear: Rapid precision care incorporating rWGS in 5 California children's hospitals demonstrates improved clinical outcomes and reduced costs of care.
Am J Hum Genet
; 108(7): 1231-1238, 2021 07 01.
Artículo
en Inglés
| MEDLINE | ID: mdl-34089648
2.
Substantial incidence of bladder dysfunction in patients with VACTERL association: Implications for surveillance.
Am J Med Genet A
; 194(2): 320-327, 2024 Feb.
Artículo
en Inglés
| MEDLINE | ID: mdl-37822287
3.
Ear anomalies and hearing loss in patients with VACTERL association and the effect of maternal diabetes.
Am J Med Genet A
; 191(11): 2693-2702, 2023 Nov.
Artículo
en Inglés
| MEDLINE | ID: mdl-37649433
4.
A homozygous Gly470Ala variant in PEX6 causes severe Zellweger spectrum disorder.
Am J Med Genet A
; 191(8): 2057-2063, 2023 08.
Artículo
en Inglés
| MEDLINE | ID: mdl-37144748
5.
Expanding the phenotype of PIK3C2A related syndrome: Report of two siblings with novel features and genotype.
Am J Med Genet A
; 188(9): 2724-2731, 2022 09.
Artículo
en Inglés
| MEDLINE | ID: mdl-35770347
6.
1-13C-propionate breath testing as a surrogate endpoint to assess efficacy of liver-directed therapies in methylmalonic acidemia (MMA).
Genet Med
; 23(8): 1522-1533, 2021 08.
Artículo
en Inglés
| MEDLINE | ID: mdl-33820958
7.
Patterns of malformation associated with esophageal atresia/tracheoesophageal fistula: A retrospective single center study.
Am J Med Genet A
; 182(6): 1351-1363, 2020 06.
Artículo
en Inglés
| MEDLINE | ID: mdl-32250545
8.
Genetic diagnoses and associated anomalies in fetuses prenatally diagnosed with esophageal atresia.
Am J Med Genet A
; 182(8): 1890-1895, 2020 08.
Artículo
en Inglés
| MEDLINE | ID: mdl-32573094
9.
Correction to: 1-13C-propionate breath testing as a surrogate endpoint to assess efficacy of liver-directed therapies in methylmalonic acidemia (MMA).
Genet Med
; 23(11): 2233, 2021 Nov.
Artículo
en Inglés
| MEDLINE | ID: mdl-33972722
10.
The swan-neck lesion: proximal tubular adaptation to oxidative stress in nephropathic cystinosis.
Am J Physiol Renal Physiol
; 308(10): F1155-66, 2015 May 15.
Artículo
en Inglés
| MEDLINE | ID: mdl-25694483
11.
Tubular obstruction leads to progressive proximal tubular injury and atubular glomeruli in polycystic kidney disease.
Am J Pathol
; 184(7): 1957-66, 2014 Jul.
Artículo
en Inglés
| MEDLINE | ID: mdl-24815352
12.
The Fate of Nephrons in Congenital Obstructive Nephropathy: Adult Recovery is Limited by Nephron Number Despite Early Release of Obstruction.
J Urol
; 194(5): 1463-72, 2015 Nov.
Artículo
en Inglés
| MEDLINE | ID: mdl-25912494
13.
Responses of proximal tubular cells to injury in congenital renal disease: fight or flight.
Pediatr Nephrol
; 29(4): 537-41, 2014 Apr.
Artículo
en Inglés
| MEDLINE | ID: mdl-23949631
14.
Chronic unilateral ureteral obstruction in the neonatal mouse delays maturation of both kidneys and leads to late formation of atubular glomeruli.
Am J Physiol Renal Physiol
; 305(12): F1736-46, 2013 Dec 15.
Artículo
en Inglés
| MEDLINE | ID: mdl-24107422
15.
Renal functional decline and glomerulotubular injury are arrested but not restored by release of unilateral ureteral obstruction (UUO).
Am J Physiol Renal Physiol
; 304(4): F432-9, 2013 Feb 15.
Artículo
en Inglés
| MEDLINE | ID: mdl-23220725
16.
Transforming growth factor-ß1 receptor inhibition preserves glomerulotubular integrity during ureteral obstruction in adults but worsens injury in neonatal mice.
Am J Physiol Renal Physiol
; 304(5): F481-90, 2013 Mar 01.
Artículo
en Inglés
| MEDLINE | ID: mdl-23303407
17.
Fight-or-flight: murine unilateral ureteral obstruction causes extensive proximal tubular degeneration, collecting duct dilatation, and minimal fibrosis.
Am J Physiol Renal Physiol
; 303(1): F120-9, 2012 Jul 01.
Artículo
en Inglés
| MEDLINE | ID: mdl-22535799
18.
[Primary T cell lymphoma of the pancreas: clinical case report]. / Linfoma primario de células T del páncreas: presentación de un caso clínico.
Rev Gastroenterol Peru
; 32(4): 423-8, 2012.
Artículo
en Español
| MEDLINE | ID: mdl-23307095
19.
Further phenotypic characterization of Kaufman oculocerebrofacial syndrome: report of five new cases and literature review.
Clin Dysmorphol
; 28(4): 175-183, 2019 Oct.
Artículo
en Inglés
| MEDLINE | ID: mdl-31162149
20.
Clinical whole genome sequencing as a first-tier test at a resource-limited dysmorphology clinic in Mexico.
NPJ Genom Med
; 4: 5, 2019.
Artículo
en Inglés
| MEDLINE | ID: mdl-30792901