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Last Posted: Jul 31, 2024

• Novel pathogenic variants of DNAH5 associated with clinical and genetic spectra of primary ciliary dyskinesia in an Arab population.
  Dalal A Al-Mutairi, et al. Frontiers in genetics 2024 0 1396797
• Investigation of the genetic and clinical features of laterality disorders in prenatal diagnosis: discovery of a novel compound heterozygous mutation in the DNAH11 gene.
  Simin Zhang, et al. Archives of gynecology and obstetrics 2024 0
• Genetic Spectrum and Clinical Characteristics of Patients with Primary Ciliary Dyskinesia: a Belgian Single Center Study.
  Noelia Rodriguez Mier, et al. Lung 2024 0
• A novel ZIC3 mutation in a Chinese family with heterotaxy and multiple types of congenital heart defect.
  Wang Yu, et al. Prenatal diagnosis 2022 0 (3) 275-279
• High prevalence of CCDC103 p.His154Pro mutation causing primary ciliary dyskinesia disrupts protein oligomerisation and is associated with normal diagnostic investigations.
  Shoemark Amelia, et al. Thorax 2017 0 (2) 157-166
• Risk factors for situs defects and congenital heart disease in primary ciliary dyskinesia.
  Best Sunayna, et al. Thorax 2018 0 (2) 203-205
• Identification of a CCDC114 variant in a Han-Chinese patient with situs inversus.
  Chen Xiangyu, et al. Experimental and therapeutic medicine 2020 0 (4) 3336-3342
• Primary Ciliary Dyskinesia: The Impact of Taste Receptor (TAS2R38) Gene Polymorphisms on Disease Outcome and Severity.
  Piatti Gioia, et al. International archives of allergy and immunology 2020 0 (9) 727-731
• The genetics of situs inversus without primary ciliary dyskinesia.
  Postema Merel C, et al. Scientific reports 2020 0 (1) 3677
• Clinical and molecular characteristics of primary ciliary dyskinesia: A tertiary care centre experience.
  Alzaid Mohammed, et al. International journal of pediatrics & adolescent medicine 2021 0 (4) 258-263
• Laterality Defects in Primary Ciliary Dyskinesia: Relationship to Ultrastructural Defect or Genotype.
  Barber Andrew T, et al. Annals of the American Thoracic Society 2022 0
• Novel homozygous variant in ARL2BP associated with retinitis pigmentosa, situs inversus, and male infertility in a Chinese patient.
  Zhu Tian, et al. Clinical genetics 2022 0
• A novel nonsense PKD1L1 variant cause heterotaxy syndrome with congenital asplenia in a Han Chinese patient.
  Gu Heng, et al. Journal of human genetics 2022 0 (10) 573-577
• Clinical phenotypes of primary ciliary dyskinesia.
  Lei Cheng, et al. Zhong nan da xue xue bao. Yi xue ban = Journal of Central South University. Medical sciences 2022 0 (1) 116-122
• Genetic and Clinical Features of Heterotaxy in a Prenatal Cohort.
  Yi Tong, et al. Frontiers in genetics 2022 0 818241
• The effect of a novel LRRC6 mutation on the flagellar ultrastructure in a primary ciliary dyskinesia patient.
  Li Yaqian, et al. Journal of assisted reproduction and genetics 2021 0 (3) 689-696
• Comprehensive Molecular Profiling of Colorectal Cancer With Situs Inversus Totalis by Next-Generation Sequencing.
  Li Hongsen, et al. Frontiers in oncology 2022 0 813253
• Exploring the diagnostic utility of genome sequencing for fetal congenital heart defects.
  Cao Y et al. Prenatal diagnosis 2022
• Identification of Pathogenic Mutations and Investigation of the NOTCH Pathway Activation in Kartagener Syndrome.
  Yue Yongjian, et al. Frontiers in genetics 2019 0 749
• Whole-Exome Sequencing and Targeted Copy Number Analysis in Primary Ciliary Dyskinesia.
  Marshall Christian R, et al. G3 (Bethesda, Md.) 2015 0 (8) 1775-81
• Carrier frequencies of eleven mutations in eight genes associated with primary ciliary dyskinesia in the Ashkenazi Jewish population.
  Fedick Anastasia M, et al. Molecular genetics & genomic medicine 2015 3 (2) 137-42
• Immunofluorescence Analysis and Diagnosis of Primary Ciliary Dyskinesia with Radial Spoke Defects.
  Frommer Adrien, et al. American journal of respiratory cell and molecular biology 2015 3
• Common variants in left/right asymmetry genes and pathways are associated with relative hand skill.
  Brandler William M, et al. PLoS genetics 2013 0 (9) e1003751
• Primary Ciliary Dyskinesia
  From NHLBI health topic site
• [Genetic background of inherited multiple pituitary hormone deficiency. Mutations of PROP1 gene in Hungary].
  Halász Zita, et al. Orvosi hetilap 2011 2 (6) 221-32
• Aglossia and Situs Inversus
  From NCATS Genetic and Rare Diseases Information Center
• Chondrodysplasia situs inversus imperforate anus polydactyly
  From NCATS Genetic and Rare Diseases Information Center
• Dextrocardia with situs inversus
  From NCATS Genetic and Rare Diseases Information Center
• Jeune syndrome situs inversus
  From NCATS Genetic and Rare Diseases Information Center
• Situs inversus
  From NCATS Genetic and Rare Diseases Information Center

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