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miguel del campo casanelles
miguel del campo casanelles
Profesor de Pediatria, Universidad de California San Diego
在 health.ucsd.edu 的电子邮件经过验证
标题
引用次数
引用次数
年份
Smith's recognizable patterns of human malformation-E-book
KL Jones, MC Jones, M Del Campo
Elsevier Health Sciences, 2021
46942021
The Mutational Spectrum of the Sonic Hedgehog Gene in Holoprosencephaly: SHH Mutations Cause a Significant Proportion of Autosomal Dominant …
L Nanni, JE Ming, M Bocian, K Steinhaus, DW Bianchi, ...
Human molecular genetics 8 (13), 2479-2488, 1999
4071999
Severe expressive-language delay related to duplication of the Williams–Beuren locus
MJ Somerville, CB Mervis, EJ Young, EJ Seo, M Del Campo, S Bamforth, ...
New England Journal of Medicine 353 (16), 1694-1701, 2005
3682005
Recessive mutations in EPG5 cause Vici syndrome, a multisystem disorder with defective autophagy
T Cullup, AL Kho, C Dionisi-Vici, B Brandmeier, F Smith, Z Urry, ...
Nature genetics 45 (1), 83-87, 2013
2792013
Epidemiology of FASD in a province in Italy: Prevalence and characteristics of children in a random sample of schools
PA May, D Fiorentino, J Phillip Gossage, WO Kalberg, H Eugene Hoyme, ...
Alcoholism: Clinical and Experimental Research 30 (9), 1562-1575, 2006
2632006
The phenotypic spectrum of congenital Zika syndrome
M Del Campo, IML Feitosa, EM Ribeiro, DDG Horovitz, ALS Pessoa, ...
American Journal of Medical Genetics Part A 173 (4), 841-857, 2017
2592017
Developmental patterning genes and their conserved functions: from model organisms to humans
A Veraksa, M Del Campo, W McGinnis
Molecular genetics and metabolism 69 (2), 85-100, 2000
1982000
Loss-of-function HDAC8 mutations cause a phenotypic spectrum of Cornelia de Lange syndrome-like features, ocular hypertelorism, large fontanelle and X-linked …
FJ Kaiser, M Ansari, D Braunholz, M Concepción Gil-Rodríguez, ...
Human molecular genetics 23 (11), 2888-2900, 2014
1802014
Partial 7q11. 23 deletions further implicate GTF2I and GTF2IRD1 as the main genes responsible for the Williams–Beuren syndrome neurocognitive profile
A Antonell, M Del Campo, LF Magano, L Kaufmann, JM De La Iglesia, ...
Journal of medical genetics 47 (5), 312-320, 2010
1642010
Integrated analysis of whole-exome sequencing and transcriptome profiling in males with autism spectrum disorders
M Codina-Solà, B Rodríguez-Santiago, A Homs, J Santoyo, M Rigau, ...
Molecular autism 6, 1-16, 2015
1442015
Autism-specific copy number variants further implicate the phosphatidylinositol signaling pathway and the glutamatergic synapse in the etiology of the disorder
I Cusco, A Medrano, B Gener, M Vilardell, F Gallastegui, O Villa, ...
Human molecular genetics 18 (10), 1795-1804, 2009
1392009
Hemizygosity at the NCF1 gene in patients with Williams-Beuren syndrome decreases their risk of hypertension
M Del Campo, A Antonell, LF Magano, FJ Muñoz, R Flores, M Bayés, ...
The American Journal of Human Genetics 78 (4), 533-542, 2006
1362006
A review of the physical features of the fetal alcohol spectrum disorders
M Del Campo, KL Jones
European journal of medical genetics 60 (1), 55-64, 2017
1272017
Monodactylous limbs and abnormal genitalia are associated with hemizygosity for the human 2q31 region that includes the HOXD cluster
M Del Campo, MC Jones, AN Veraksa, CJ Curry, KL Jones, JT Mascarello, ...
The American Journal of Human Genetics 65 (1), 104-110, 1999
1261999
An RCT of rapid genomic sequencing among seriously ill infants results in high clinical utility, changes in management, and low perceived harm
DP Dimmock, MM Clark, M Gaughran, JA Cakici, SA Caylor, C Clarke, ...
The American Journal of Human Genetics 107 (5), 942-952, 2020
1212020
MLL2 mutation detection in 86 patients with Kabuki syndrome: a genotype–phenotype study
P Makrythanasis, BW Van Bon, M Steehouwer, B Rodríguez‐Santiago, ...
Clinical genetics 84 (6), 539-545, 2013
1182013
Developmental delay in fetal aminopterin/methotrexate syndrome
M Del Campo, K Kosaki, FC Bennett, KL Jones
Teratology 60 (1), 10-12, 1999
1081999
Fetal alcohol spectrum disorders: extending the range of structural defects
KL Jones, HE Hoyme, LK Robinson, M Del Campo, MA Manning, ...
American Journal of Medical Genetics Part A 152 (11), 2731-2735, 2010
952010
Mutations of the gene encoding otogelin are a cause of autosomal-recessive nonsyndromic moderate hearing impairment
M Schraders, L Ruiz-Palmero, E Kalay, J Oostrik, FJ del Castillo, O Sezgin, ...
The American Journal of Human Genetics 91 (5), 883-889, 2012
912012
Analysis of two language-related genes in autism: A case–control association study of: FOXP2: And: CNTNAP2
C Toma, A Hervás, B Torrico, N Balmaña, M Salgado, M Maristany, ...
Psychiatric genetics 23 (2), 82-85, 2013
892013
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