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1.
Genome Analysis in Sick Neonates and Infants: High-yield Phenotypes and Contribution of Small Copy Number Variations.
J Pediatr
; 244: 38-48.e1, 2022 05.
Article
in English
| MEDLINE | ID: mdl-35131284
2.
Update of the genotype and phenotype of KMT2D and KDM6A by genetic screening of 100 patients with clinically suspected Kabuki syndrome.
Am J Med Genet A
; 182(10): 2333-2344, 2020 10.
Article
in English
| MEDLINE | ID: mdl-32803813
3.
Transient myeloproliferative disorder with partial trisomy 21.
Pediatr Blood Cancer
; 62(11): 2021-4, 2015 Nov.
Article
in English
| MEDLINE | ID: mdl-26138905
4.
A case report of two brothers with ATR-X syndrome due to low maternal frequency of somatic mosaicism for an intragenic deletion in the ATRX.
J Hum Genet
; 59(7): 408-10, 2014 Jul.
Article
in English
| MEDLINE | ID: mdl-24898829
5.
Array comparative genomic hybridization reveals frequent alterations of G1/S checkpoint genes in undifferentiated pleomorphic sarcoma of bone.
Genes Chromosomes Cancer
; 50(5): 291-306, 2011 May.
Article
in English
| MEDLINE | ID: mdl-21254299
6.
Focal 9p instability in hematologic neoplasias revealed by comparative genomic hybridization and single-nucleotide polymorphism microarray analyses.
Genes Chromosomes Cancer
; 49(4): 309-18, 2010 Apr.
Article
in English
| MEDLINE | ID: mdl-20013897
7.
Frequent deletion of CDKN2A and recurrent coamplification of KIT, PDGFRA, and KDR in fibrosarcoma of bone--an array comparative genomic hybridization study.
Genes Chromosomes Cancer
; 49(2): 132-43, 2010 Feb.
Article
in English
| MEDLINE | ID: mdl-19862822
8.
Interstitial Pneumonia Secondary to Hermansky-Pudlak Syndrome Type 4 Treated with Different Antifibrotic Agents.
Intern Med
; 60(5): 783-788, 2021 Mar 01.
Article
in English
| MEDLINE | ID: mdl-33229802
9.
Array comparative genomic hybridization identifies a distinct DNA copy number profile in renal cell cancer associated with hereditary leiomyomatosis and renal cell cancer.
Genes Chromosomes Cancer
; 48(7): 544-51, 2009 Jul.
Article
in English
| MEDLINE | ID: mdl-19373782
10.
Novel TRPV6 mutations in the spectrum of transient neonatal hyperparathyroidism.
J Physiol Sci
; 70(1): 33, 2020 Jul 09.
Article
in English
| MEDLINE | ID: mdl-32646367
11.
Assessment of molecular cytogenetic methods for the detection of chromosomal abnormalities.
Acta Med Okayama
; 60(5): 279-87, 2006 Oct.
Article
in English
| MEDLINE | ID: mdl-17072374
12.
Leukoencephalopathy associated with 11q24 deletion involving the gene encoding hepatic and glial cell adhesion molecule in two patients.
Eur J Med Genet
; 58(9): 492-6, 2015 Sep.
Article
in English
| MEDLINE | ID: mdl-26193381
13.
Progressive brain atrophy in Schinzel-Giedion syndrome with a SETBP1 mutation.
Eur J Med Genet
; 58(8): 369-71, 2015 Aug.
Article
in English
| MEDLINE | ID: mdl-26096993
14.
Ehlers-Danlos syndrome, vascular type: a novel missense mutation in the COL3A1 gene.
Congenit Anom (Kyoto)
; 52(4): 207-10, 2012 Dec.
Article
in English
| MEDLINE | ID: mdl-23181496
15.
High-resolution oligonucleotide array comparative genomic hybridization study and methylation status of the RPS14 gene in de novo myelodysplastic syndromes.
Cancer Genet Cytogenet
; 197(2): 166-73, 2010 Mar.
Article
in English
| MEDLINE | ID: mdl-20193850
16.
Unique maternal deletion of 15q in a patient with some symptoms of Prader-Willi syndrome.
Pediatr Int
; 47(5): 541-5, 2005 Oct.
Article
in English
| MEDLINE | ID: mdl-16190961
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