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BMC Medical Genetics
Papers 2087
1 page of 209 pages (2,087 results)
Published in BMC Medical Genetics 1.74
Yan-Wei Sha7
Estimated H-index: 7
Ding Ma (Qingdao University)+ -3 AuthorsXiong Wang1
Estimated H-index: 1
(Qingdao University)
Background Proximal symphalangism (SYM1; OMIM 185800), also called Cushing’s symphalangism, is an infrequent autosomal dominant disease. An SYM1 patient typically features variable fusion of proximal interphalangeal joints in the hands and feet.
Published on Dec 1, 2019in BMC Medical Genetics 1.74
Xiang Chen2
Estimated H-index: 2
(Fudan University),
Kai Yan1
Estimated H-index: 1
(Fudan University)
+ 6 AuthorsWenhao Zhou16
Estimated H-index: 16
(Fudan University)
CHARGE syndrome is characterized by coloboma, heart defects, choanal atresia, growth retardation, genitourinary malformation and ear abnormalities. The chromodomain helicase DNA-binding protein 7 (CHD7) gene is the major cause of CHARGE syndrome and is inherited in an autosomal dominant manner. Currently, the phenotype spectrum of CHARGE syndrome in neonatal population remain elusive. We aimed to investigate the phenotype spectrum of neonatal patients suspected to have CHARGE syndrome with patho...
Published on May 1, 2019in BMC Medical Genetics 1.74
Alla Semyachkina2
Estimated H-index: 2
Ey Voskoboeva + 7 AuthorsRg Kuramagomedova
Background Hunter syndrome (mucopolysaccharidosis type II) is a recessive X-linked disorder due to mutations in the iduronate 2-sulfatase (IDS) gene. The IDS gene encodes a lysosomal enzyme, iduronate 2-sulfatase. The disease occurs almost exclusively in males. However, in the literature, 12 cases of the disease in females are known due to structural anomalies, a non-random chromosome X inactivation or chromosome X monosomy. The purpose of this article is to demonstrate a rare case of Hunter syn...
Published on Dec 1, 2019in BMC Medical Genetics 1.74
Hongyan Li1
Estimated H-index: 1
(Southern Medical University),
Tianbiao Zhou1
Estimated H-index: 1
(STU: Shantou University)
+ 1 AuthorsWenshan Lin (STU: Shantou University)
This meta-analysis was conducted to assess the relationship between the transforming growth factor-beta 1 (TGF-β1) + 869 T/C gene polymorphism, + 915 G/C gene polymorphism, and the susceptibility of acute rejection in the recipients with renal transplantation. Relevant studies were searched and identified from the Cochrane Library and PubMed, and eligible investigations were recruited and data were calculated by meta-analysis. In this study, we found no relationship between either TGF-β1 + 869 T...
Published on Apr 5, 2019in BMC Medical Genetics 1.74
Malena P. Pantou1
Estimated H-index: 1
Polyxeni Gourzi1
Estimated H-index: 1
+ 6 AuthorsDimitrios Degiannis14
Estimated H-index: 14
Background Restrictive cardiomyopathy is a rare cardiac disease, for which several genes including TNNT2, MYPN, FLNC and TNNI3 have been associated with its familial form.
Published on Dec 1, 2019in BMC Medical Genetics 1.74
Junjue Chen (SJTU: Shanghai Jiao Tong University), Yan Wei (SJTU: Shanghai Jiao Tong University)+ 1 AuthorsXiaoli Kang (SJTU: Shanghai Jiao Tong University)
Infantile nystagmus (IN) is an oculomotor disorder that is characterized by conjugate involuntary, rapid and repetitive movement of the eyes. To date, the pathogenesis of IN remains unclear. Many patients show an X-linked inheritance pattern. In this study, we explored the mutation in the FERM domain-containing 7 (FRMD7) gene in a Chinese family with X-linked infantile nystagmus. We conducted comprehensive ocular examinations and collected 5 ml of blood samples from members of a family with X-li...
Published on Dec 1, 2019in BMC Medical Genetics 1.74
Lorenzo Iughetti26
Estimated H-index: 26
(University of Modena and Reggio Emilia),
Laura Lucaccioni4
Estimated H-index: 4
(University of Modena and Reggio Emilia)
+ 5 AuthorsFlorence Roucher-Boulez2
Estimated H-index: 2
(UCBL: Claude Bernard University Lyon 1)
X-linked Adrenal Hypoplasia Congenita (AHC) is a rare cause of primary adrenal insufficiency due to mutations in the NR0B1 gene, causing a loss of function of the nuclear receptor protein DAX-1. Adrenal insufficiency usually appears in the first 2 months of life, but can sometimes emerge during childhood. Hypogonadotropic Hypogonadism is often associated later in life and patients may develop azoospermia. We describe an unusual onset of AHC started with isolated hypoaldosteronism as first and on...
Published on Jan 29, 2019in BMC Medical Genetics 1.74
Shengchun Liu (CQMU: Chongqing Medical University), Mingxing Wu3
Estimated H-index: 3
(CQMU: Chongqing Medical University)
+ 3 AuthorsXiyuan Zhou2
Estimated H-index: 2
(CQMU: Chongqing Medical University)
Background Age-related macular degeneration (AMD) can cause vision loss or blindness in elderly. The associations between single nucleotide polymorphism (SNP) and AMD in Chinese Tujia ethnic minority group are still unclear.
Published on Dec 1, 2019in BMC Medical Genetics 1.74
Tomoyuki Momma4
Estimated H-index: 4
(Fukushima Medical University),
Kenji Gonda6
Estimated H-index: 6
+ 12 AuthorsShigehira Saji9
Estimated H-index: 9
(Fukushima Medical University)
Background Lynch syndrome, is an autosomal dominantly inherited disease that predisposes individuals to a high risk of colorectal cancers, and some mismatch-repair genes have been identified as causative genes. The purpose of this study was to investigate the genomic rearrangement of the gene in a family with Lynch syndrome followed for more than 45 years.
Published on Dec 1, 2019in BMC Medical Genetics 1.74
Mitochondrial respiratory chain consists of five complexes encoded by nuclear and mitochondrial genomes. Mitochondrial aminoacyl-tRNA synthetases are key enzymes in the synthesis of such complexes. Bi-allelic variants of VARS2, a nuclear gene encoding for valyl-tRNA (Val-tRNA) synthetase, are associated to several forms of mitochondrial encephalopathies or cardiomyoencephalopathies. Among these, the rare homozygous c.1100C > T (p.Thr367Ile) mutation variably presents with progressive development...