Rani R Deepak,Tester F Ashavaid
Rani R Deepak
Cystic fibrosis (CF) has been observed to be far more common in India, than was previously thought. Variability in CF clinical symptoms among individuals, results in diagnostic errors. Also, CF diagnostic facilities are not available at all...
Seyed Mohammad Akrami
Seyed Mohammad Akrami
Consanguineous marriage, marriage between close biological kin, especially that between first cousins, is socially favored in some parts of North Africa, the Middle East and Asia. An increased rate of congenital anomalies and autosomal rece...
Genome-wide array data and next generation sequencing unravel the etiology of urogenital malformations [0.03%]
基因芯片和新一代测序技术揭示泌尿生殖道畸形的致病原因
Michael Ludwig,Heiko Reutter
Michael Ludwig
Development of the genitourinary tract requires spatiotemporal expression of a myriad of genes involved in various cascades and signaling events. To date, researchers have put great efforts into defining the etiology of these malformations....
Cytogenetic and clinical features of a 13 year old male with trisomy 8 [0.03%]
染色体8三体综合症的细胞遗传学和临床特征-一例13岁男性患者报告
Mahmut Balkan,Mehmet Fidanboy,Cihan Özmen et al.
Mahmut Balkan et al.
Trisomy 8 is a relatively rare chromosomal abnormality. The majority of cases present with the mosaic form. Regular trisomy 8 is usually lethal and frequently results in miscarriage, while those with "trisomy 8 mosaicism" are more likely to...
Megan Bowers,Gabrielle Gold-von Simson
Megan Bowers
An adolescent female with Moebius syndrome developed paroxysmal hypertension, orthostatic hypotension and autonomic symptoms. Common causes of dysautonomia were excluded by the work-up, which supported a diagnosis of baroreflex failure. Neu...
Rahul Sinha,Shamsher Dalal,Uma Raju et al.
Rahul Sinha et al.
The chromosome 9p deletion syndrome is a rare but specific clinical event. The clinical manifestations include dysmorphic facial features (trigonocephaly, midface hypoplasia, upward slanting palpebral fissures, and a long philtrum) and psyc...
Samira Ismail,Nivine A Helmy,Wael M Mahmoud et al.
Samira Ismail et al.
Interstitial deletion of the long arm of chromosome 4 is rare. Patients with interstitial deletion of the long arm of chromosome 4 differ from those with terminal deletions. Phenotypes may be variable, depending upon the specific length and...
Protein expression of matrix metalloproteinase (MMP-1, -2, -3, -9 and -14) in Ewing family tumors and medulloblastomas of pediatric patients [0.03%]
儿童尤文肉瘤家族性肿瘤和髓母细胞瘤的基质金属蛋白酶(MMP-1，-2，-3，-9和-14)表达分布及其临床意义
Elvis Cueva Mateo,Fabio José Nascimento Motta,Rosane Gomes de Paula Queiroz et al.
Elvis Cueva Mateo et al.
The matrix metalloproteinases (MMP) are endopeptidases performing proteolytic functions in the extracellular matrix and their overexpression has been suggested to be a characteristic of malignant tumors. Molecular changes such as the presen...
Cytogenetic analysis in a large series of children with non-syndromic mental retardation [0.03%]
一大群非综合征性精神发育不全儿童的细胞遗传分析
Inesse Ben Abdallah Bouhjar,Abir Gmidène,Soumaya Mougou-Zrelli et al.
Inesse Ben Abdallah Bouhjar et al.
Mental retardation affects 1-3% of the population. To evaluate the implication of chromosomal abnormalities in the etiology of mental retardation, 1420 patients with non-syndromic mental retardation recruited at the department of cytogeneti...
Advancing our understanding of the inheritance and transmission of pectus excavatum [0.03%]
加深对漏斗胸遗传及发病机制理解的研究进展
Lisa Horth,Michael W Stacey,Virginia K Proud et al.
Lisa Horth et al.
Pectus excavatum is the most common congenital chest wall abnormality expressed in children, yet its inheritance is poorly understood. Here we present the first comprehensive assessment of the inheritance of this disorder. After evaluating ...