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1.
Mutations in MAP3K7 that Alter the Activity of the TAK1 Signaling Complex Cause Frontometaphyseal Dysplasia.
Am J Hum Genet
; 99(2): 392-406, 2016 08 04.
Artículo
en Inglés
| MEDLINE | ID: mdl-27426733
2.
Somatic mosaic monosomy 7 and UPD7q in a child with MIRAGE syndrome caused by a novel SAMD9 mutation.
Pediatr Blood Cancer
; 66(4): e27589, 2019 04.
Artículo
en Inglés
| MEDLINE | ID: mdl-30565860
3.
Autosomal dominant frontometaphyseal dysplasia: Delineation of the clinical phenotype.
Am J Med Genet A
; 173(7): 1739-1746, 2017 Jul.
Artículo
en Inglés
| MEDLINE | ID: mdl-28498505
4.
Disruption of the methyltransferase-like 23 gene METTL23 causes mild autosomal recessive intellectual disability.
Hum Mol Genet
; 23(15): 4015-23, 2014 Aug 01.
Artículo
en Inglés
| MEDLINE | ID: mdl-24626631
5.
Quantitative and qualitative trophectoderm grading allows for prediction of live birth and gender.
J Assist Reprod Genet
; 33(1): 49-57, 2016 Jan.
Artículo
en Inglés
| MEDLINE | ID: mdl-26572782
6.
Disruption of the ARID1B and ADAMTS6 loci due to a t(5;6)(q12.3;q25.3) in a patient with developmental delay.
Am J Med Genet A
; 164A(12): 3126-31, 2014 Dec.
Artículo
en Inglés
| MEDLINE | ID: mdl-25250687
7.
The diagnostic challenge of progressive pseudorheumatoid dysplasia (PPRD): a review of clinical features, radiographic features, and WISP3 mutations in 63 affected individuals.
Am J Med Genet C Semin Med Genet
; 160C(3): 217-29, 2012 Aug 15.
Artículo
en Inglés
| MEDLINE | ID: mdl-22791401
8.
Singleton exome sequencing of 90 fetuses with ultrasound anomalies revealing novel disease-causing variants and genotype-phenotype correlations.
Eur J Hum Genet
; 30(4): 428-438, 2022 04.
Artículo
en Inglés
| MEDLINE | ID: mdl-34974531
9.
Genotype-Phenotype Comparison in POGZ-Related Neurodevelopmental Disorders by Using Clinical Scoring.
Genes (Basel)
; 13(1)2022 01 15.
Artículo
en Inglés
| MEDLINE | ID: mdl-35052493
10.
Case Report and Review of the Literature: A New and a Recurrent Variant in the VARS2 Gene Are Associated With Isolated Lethal Hypertrophic Cardiomyopathy, Hyperlactatemia, and Pulmonary Hypertension in Early Infancy.
Front Pediatr
; 9: 660076, 2021.
Artículo
en Inglés
| MEDLINE | ID: mdl-33937156
11.
A novel cryptic splice site mutation in COL1A2 as a cause of osteogenesis imperfecta.
Bone Rep
; 15: 101110, 2021 Dec.
Artículo
en Inglés
| MEDLINE | ID: mdl-34381850
12.
Congenital Diarrhea and Cholestatic Liver Disease: Phenotypic Spectrum Associated with MYO5B Mutations.
J Clin Med
; 10(3)2021 01 28.
Artículo
en Inglés
| MEDLINE | ID: mdl-33525641
13.
Mapping of balanced chromosome translocation breakpoints to the basepair level from microdissected chromosomes.
J Cell Mol Med
; 14(8): 2078-84, 2010 Aug.
Artículo
en Inglés
| MEDLINE | ID: mdl-20597996
14.
Cleft lip/palate and hereditary diffuse gastric cancer: report of a family harboring a CDH1 c.687 + 1G > A germline mutation and review of the literature.
Fam Cancer
; 18(2): 253-260, 2019 04.
Artículo
en Inglés
| MEDLINE | ID: mdl-30306390
15.
Thirty-two new cases with small supernumerary marker chromosomes detected in connection with fertility problems: detailed molecular cytogenetic characterization and review of the literature.
Int J Mol Med
; 21(6): 705-14, 2008 Jun.
Artículo
en Inglés
| MEDLINE | ID: mdl-18506363
16.
Prenatal Genetic Testing for Dopa-Responsive Dystonia - Clinical Judgment in the Context of Next Generation Sequencing.
J Med Life
; 11(4): 343-345, 2018.
Artículo
en Inglés
| MEDLINE | ID: mdl-30894892
17.
High rate of molecular alteration in histologically tumour-free bronchial epithelium of NSCLC patients detected by multicolour fluorescence in situ hybridisation.
Oncol Rep
; 15(5): 1233-40, 2006 May.
Artículo
en Inglés
| MEDLINE | ID: mdl-16596192
18.
Combination of cytology, fluorescence in situ hybridization for aneuploidy, and reverse-transcriptase polymerase chain reaction for human mammaglobin/mammaglobin B expression improves diagnosis of malignant effusions.
J Clin Oncol
; 22(3): 474-83, 2004 Feb 01.
Artículo
en Inglés
| MEDLINE | ID: mdl-14752070
19.
Chromosomal Aneuploidies and Early Embryonic Developmental Arrest.
Int J Fertil Steril
; 9(3): 346-53, 2015.
Artículo
en Inglés
| MEDLINE | ID: mdl-26644858
20.
The elastin gene is disrupted in a family with a balanced translocation t(7;16)(q11.23;q13) associated with a variable expression of the Williams-Beuren syndrome.
Eur J Hum Genet
; 10(6): 351-61, 2002 Jun.
Artículo
en Inglés
| MEDLINE | ID: mdl-12080386