Detalles de la búsqueda
1.
[Abnormalities of white matter differentiate the Parkinson variant of multiple system atrophy from Parkinson's disease].
Zhonghua Nei Ke Za Zhi
; 59(11): 872-879, 2020 Nov 01.
Artículo
en Zh
| MEDLINE | ID: mdl-33120491
2.
Smallest critical region for microcephaly in a patient with mosaic ring chromosome 13.
Genet Mol Res
; 12(2): 1311-7, 2013 Apr 25.
Artículo
en Inglés
| MEDLINE | ID: mdl-23661454
3.
A whole genome methylation analysis of systemic lupus erythematosus: hypomethylation of the IL10 and IL1R2 promoters is associated with disease activity.
Genes Immun
; 13(3): 214-20, 2012 Apr.
Artículo
en Inglés
| MEDLINE | ID: mdl-22048455
4.
Clinical utility of array comparative genomic hybridisation for prenatal diagnosis: a cohort study of 3171 pregnancies.
BJOG
; 119(5): 614-25, 2012 Apr.
Artículo
en Inglés
| MEDLINE | ID: mdl-22313859
5.
Partial trisomy 1q (1q42.13-->qter) and partial monosomy 6q (6q27-->qter) in a girl with single median maxillary central incisor, corpus callosum dysgenesis and developmental delay.
Genet Couns
; 23(4): 447-55, 2012.
Artículo
en Inglés
| MEDLINE | ID: mdl-23431743
6.
Partial monosomy 9p (9p22.2-->pter) and partial trisomy 18q (18q21.32-->qter) in a female infant with anorectal malformations.
Genet Couns
; 23(2): 201-6, 2012.
Artículo
en Inglés
| MEDLINE | ID: mdl-22876578
7.
Pure distal 9p deletion in a female infant with cerebral palsy.
Genet Couns
; 23(2): 215-21, 2012.
Artículo
en Inglés
| MEDLINE | ID: mdl-22876580
8.
Partial monosomy 3p (3p26.2 --> pter) and partial trisomy 5q (5q34 --> qter) in a girl with coarctation of the aorta, congenital heart defects, short stature, microcephaly and developmental delay.
Genet Couns
; 23(3): 405-13, 2012.
Artículo
en Inglés
| MEDLINE | ID: mdl-23072190
9.
A 24.2-Mb deletion of 4q12 --> q21.21 characterized by array CGH in a 131/2-year-old girl with short stature, mental retardation, developmental delay, hyperopia, exotropia, enamel defects, delayed tooth eruption and delayed puberty.
Genet Couns
; 22(3): 255-61, 2011.
Artículo
en Inglés
| MEDLINE | ID: mdl-22029166
10.
Mosaic supernumerary r(1)(p13.2q23.3) in a 10-year-old girl with epilepsy facial asymmetry psychomotor retardation kyphoscoliosis dermatofibrosarcoma and multiple exostoses.
Genet Couns
; 22(3): 273-80, 2011.
Artículo
en Inglés
| MEDLINE | ID: mdl-22029168
11.
Human opioid µ-receptor A118G polymorphism may protect against central pruritus by epidural morphine for post-cesarean analgesia.
Acta Anaesthesiol Scand
; 54(10): 1265-9, 2010 Nov.
Artículo
en Inglés
| MEDLINE | ID: mdl-21039348
12.
LncRNA SNHG1 attenuates neuropathic pain following spinal cord injury by regulating CDK4 level.
Eur Rev Med Pharmacol Sci
; 24(23): 12034-12040, 2020 12.
Artículo
en Inglés
| MEDLINE | ID: mdl-33336721
13.
Role of three-dimensional power Doppler in the antenatal diagnosis of placenta accreta: comparison with gray-scale and color Doppler techniques.
Ultrasound Obstet Gynecol
; 33(2): 193-203, 2009 Feb.
Artículo
en Inglés
| MEDLINE | ID: mdl-19173239
14.
Connective tissue growth factor linked to the E7 tumor antigen generates potent antitumor immune responses mediated by an antiapoptotic mechanism.
Gene Ther
; 15(13): 1007-16, 2008 Jul.
Artículo
en Inglés
| MEDLINE | ID: mdl-18356819
15.
Authors' response to: the clinical utility and indications of chromosomal microarray analysis in prenatal diagnosis.
BJOG
; 120(1): 120, 2013 Jan.
Artículo
en Inglés
| MEDLINE | ID: mdl-23237265
16.
'Big-eyed frog' sign on spatiotemporal image correlation (STIC) in the antenatal diagnosis of transposition of the great arteries.
Ultrasound Obstet Gynecol
; 32(6): 762-8, 2008 Nov.
Artículo
en Inglés
| MEDLINE | ID: mdl-18780310
17.
Craniosynostosis and congenital tracheal anomalies in an infant with Pfeiffer syndrome carrying the W290C FGFR2 mutation.
Genet Couns
; 19(2): 165-72, 2008.
Artículo
en Inglés
| MEDLINE | ID: mdl-18618990
18.
Resolution of high uterine artery pulsatility index and notching following sildenafil citrate treatment in a growth-restricted pregnancy.
Ultrasound Obstet Gynecol
; 40(5): 609-10, 2012 Nov.
Artículo
en Inglés
| MEDLINE | ID: mdl-22350857
19.
Effect of arterioarterial anastomosis on early-onset umbilical artery flow abnormality in a monochorionic-diamniotic twin.
Ultrasound Obstet Gynecol
; 40(3): 371-2, 2012 Sep.
Artículo
en Inglés
| MEDLINE | ID: mdl-22302609
20.
Re: Microarray application in prenatal diagnosis: a position statement from the cytogenetics working group of the Italian Society of Human Genetics (SIGU), November 2011.
Ultrasound Obstet Gynecol
; 39(5): 603-4; author reply 604-6, 2012 May.
Artículo
en Inglés
| MEDLINE | ID: mdl-22539494