Detalles de la búsqueda
1.
Breakpoints Identification of a Balanced Complex Chromosome Rearrangement Case: 46,XX, t(6;15;10;9)(q13;q15;p11.2;q34.3) ins(9;8)(q22.33;q21.1q21.3).
Clin Lab
; 67(4)2021 Apr 01.
Artículo
en Inglés
| MEDLINE | ID: mdl-33865258
2.
Compound heterozygous variants in MYH11 underlie autosomal recessive megacystis-microcolon-intestinal hypoperistalsis syndrome in a Chinese family.
J Hum Genet
; 64(11): 1067-1073, 2019 Nov.
Artículo
en Inglés
| MEDLINE | ID: mdl-31427716
3.
A novel SLC6A8 mutation associated with intellectual disabilities in a Chinese family exhibiting creatine transporter deficiency: case report.
BMC Med Genet
; 19(1): 193, 2018 11 06.
Artículo
en Inglés
| MEDLINE | ID: mdl-30400883
4.
[Combined G-banded karyotyping and multiplex ligation-dependent probe amplification for the detection of chromosomal abnormalities in fetuses with congenital heart defects].
Zhonghua Yi Xue Yi Chuan Xue Za Zhi
; 34(1): 1-5, 2017 Feb 10.
Artículo
en Zh
| MEDLINE | ID: mdl-28186583
5.
[Genetic and prenatal diagnosis for a Chinese family with primary carnitine deficiency].
Zhonghua Yi Xue Yi Chuan Xue Za Zhi
; 32(4): 490-4, 2015 Aug.
Artículo
en Zh
| MEDLINE | ID: mdl-26252091
6.
[Genetic and prenatal diagnosis for four families with Williams-Beuren syndrome].
Zhongguo Dang Dai Er Ke Za Zhi
; 17(12): 1267-72, 2015 Dec.
Artículo
en Zh
| MEDLINE | ID: mdl-26695662
7.
[Genetic analysis for a family with Cockayne syndrome].
Zhonghua Yi Xue Yi Chuan Xue Za Zhi
; 31(3): 285-8, 2014 Jun.
Artículo
en Zh
| MEDLINE | ID: mdl-24928003
8.
[A novel mutation of cartilage oligomeric matrix protein gene underlies multiple epiphyseal dysplasia].
Zhonghua Yi Xue Yi Chuan Xue Za Zhi
; 30(3): 322-5, 2013 Jun.
Artículo
en Zh
| MEDLINE | ID: mdl-23744324
9.
[Application of array-CGH and MLPA for detection of 4 cryptic unbalanced translocations].
Zhonghua Yi Xue Yi Chuan Xue Za Zhi
; 30(3): 288-92, 2013 Jun.
Artículo
en Zh
| MEDLINE | ID: mdl-23744316
10.
[Analysis of copy number variations in an infant with Cri du Chat syndrome by array-based comparative genomic hybridization].
Zhonghua Yi Xue Yi Chuan Xue Za Zhi
; 30(4): 443-6, 2013 Aug.
Artículo
en Zh
| MEDLINE | ID: mdl-23926013
11.
[Cytogenetic and molecular analysis of idic(Yp) in 1 infertile man and 1 prenatal fetus].
Zhonghua Nan Ke Xue
; 19(7): 642-6, 2013 Jul.
Artículo
en Zh
| MEDLINE | ID: mdl-23926684
12.
Prenatal and postnatal diagnosis of Phelan-McDermid syndrome: A report of 21 cases from a medical center and review of the literature.
Front Genet
; 13: 961196, 2022.
Artículo
en Inglés
| MEDLINE | ID: mdl-36118903
13.
[A novel mutation Glu441stop (GAA to TAA) of androgen receptor gene resulting in complete androgen insensitivity syndrome].
Zhonghua Yi Xue Yi Chuan Xue Za Zhi
; 28(2): 176-9, 2011 Apr.
Artículo
en Zh
| MEDLINE | ID: mdl-21462130
14.
[Analysis of fetal chromosomal karyotype and etiology in 252 cases of early spontaneous abortion].
Zhonghua Yi Xue Yi Chuan Xue Za Zhi
; 28(5): 575-8, 2011 Oct.
Artículo
en Zh
| MEDLINE | ID: mdl-21983739
15.
[Mutation analysis of the androgen receptor gene in a complete androgen insensitivity syndrome family].
Zhonghua Yi Xue Yi Chuan Xue Za Zhi
; 26(6): 606-9, 2009 Dec.
Artículo
en Zh
| MEDLINE | ID: mdl-19953479
16.
[Karyotype analysis of chorionic villi from pregnant women with missed abortion using multiplex ligation-dependent probe amplification].
Zhonghua Fu Chan Ke Za Zhi
; 44(7): 509-13, 2009 Jul.
Artículo
en Zh
| MEDLINE | ID: mdl-19957550
17.
[Chromosome aberration in a full-term neonate with low birth weight using microarray comparative genomic hybridization].
Zhonghua Yi Xue Yi Chuan Xue Za Zhi
; 25(5): 550-4, 2008 Oct.
Artículo
en Zh
| MEDLINE | ID: mdl-18841570
18.
De novo paternal origin duplication of chromosome 11p15.5: report of two Chinese cases with Beckwith-Wiedemann syndrome.
Mol Cytogenet
; 10: 46, 2017.
Artículo
en Inglés
| MEDLINE | ID: mdl-29270226
19.
Novel homozygous FANCL mutation and somatic heterozygous SETBP1 mutation in a Chinese girl with Fanconi Anemia.
Eur J Med Genet
; 60(7): 369-373, 2017 Jul.
Artículo
en Inglés
| MEDLINE | ID: mdl-28419882
20.
Copy number changes and methylation patterns in an isodicentric and a ring chromosome of 15q11-q13: report of two cases and review of literature.
Mol Cytogenet
; 8: 97, 2015.
Artículo
en Inglés
| MEDLINE | ID: mdl-26697114