Recessive mutation on mouse chromosome 13 associated with abnormal hair texture and cardiomyopathy [0.03%]
与毛发异常和心肌病有关的第13号染色体隐性突变
Jun-Ichi Suto
Jun-Ichi Suto
An autosomal recessive mutation (aht) associated with abnormal hair texture and cardiomyopathy spontaneously arose in the Y-chromosome consomic mouse strain DH-Chr YSS . The aht/aht mouse phenotypes closely resembled those of rul/rul mice, ...
Orofacial clefts: Reflections on prenatal diagnosis and family history based on a series of cases of a tertiary children hospital [0.03%]
唇腭裂患者家系及产前诊断分析(某儿童专科医院系列病例的回顾性研究)
Tatiana Moreira,Margarida Dias,Madalena Von Hafe et al.
Tatiana Moreira et al.
Prenatal diagnosis of orofacial clefts allows adequate counseling and planning for prenatal care and delivery. In 2001, two-dimensional ultrasound screening became universally used in Portugal by government guidelines, and after 2007 more a...
An easy-to-use semi-automatic volumetric evaluation for secondary bone grafting in patients with unilateral alveolar cleft [0.03%]
一种用于单侧牙槽裂患者二次骨增量移植的简便半自动体积评估方法
Mizuki Teramoto,Motoki Katsube,Natsuko Utsunomiya et al.
Mizuki Teramoto et al.
Surgical intervention for alveolar bone formation is important in patients with alveolar cleft; however, the treatment methods and materials are still controversial. A precise evaluation method for postoperative bone formation is important ...
Hiroki Goto,Sota Iwatani,Toshihiko Ikuta et al.
Hiroki Goto et al.
A variant in the LDL receptor-related protein encoding gene LRP4 underlying polydactyly and phalangeal synostosis in a family of Pakistani origin [0.03%]
一个巴基斯坦系谱的多指症和掌骨愈合症变异基因LRP4的研究
Hammal Khan,Kifayat Ullah,Abid Jan et al.
Hammal Khan et al.
A family of Pakistani origin, segregating polydactyly, and phalangeal synostosis in an autosomal dominant manner, has been investigated and presented in the present report. Whole-exome sequencing (WES), followed by segregation analysis usin...
First-trimester prenatal diagnosis of Coffin-Siris syndrome-related congenital diaphragmatic hernia: The role of exome sequencing in determining genetic etiology [0.03%]
产前诊断Coffin-Siris综合征相关先天性膈疝：全外显子组测序在确定遗传病因中的作用
Xiang-Yi Jing,Li Zhen,Xiao-Mei Lin et al.
Xiang-Yi Jing et al.
Three-dimensional morphological analysis of the human spleen and its surrounding organs during the early fetal period [0.03%]
人胎儿早期脾脏及周围器官的三维形态学分析
Natsuko Utsunomiya,Shiori Nakano,Motoki Katsube et al.
Natsuko Utsunomiya et al.
The spleen has variations in its morphology and is considered to acquire a defined shape in the third month of gestation. However, few studies have investigated spleen development during the first 3 months of fetal life. This study aimed to...
Hiroshi Futagawa,Shiho Ito,Kenjiro Kosaki et al.
Hiroshi Futagawa et al.
Case Reports
Congenital anomalies. 2023 Sep;63(5):174-175. DOI:10.1111/cga.12532 2023
Predisposing factors of non-syndromic cleft lip and cleft palate in the northern Thai population: A 10-year retrospective case-control study [0.03%]
泰国北部非综合症唇裂和腭裂的发病因素：一项十年回顾性病例对照研究
Chirakan Charoenvicha,Karn Wongkawinwoot,Wachiranun Sirikul et al.
Chirakan Charoenvicha et al.
The most common congenital anomaly is orofacial cleft, which is categorized into two main types: cleft lip with or without cleft palate (CL/P) and cleft palate only (CPO). One of the most accepted etiologies is multifactorial (gene-environm...
Multicenter Study
Congenital anomalies. 2023 Sep;63(5):147-153. DOI:10.1111/cga.12529 2023