Associated Papers
Prenatal Diagnosis of Malformations of Cortical Development: A Review of Genetic and Imaging Advances.
Hu J et al.
Biomedicines, 2026
[Clinical analysis of a child with heterotopic ventricular gray matter Renpenning syndrome caused by PQBP1 gene mutation and a literature review].
Fan Y et al.
Zhonghua Yi Xue Yi Chuan Xue Za Zhi = Zhonghua Yixue Yichuanxue Zazhi = Chinese Journal of Medical Genetics, 2025
Distinct Facial Dysmorphisms in a Child with Renpenning Syndrome.
Kanagavel Y et al.
Annals of Indian Academy of Neurology, 2025
Diagnostic yield of 1000 trio analyses with exome and genome sequencing in a clinical setting.
Malmgren H et al.
Frontiers in Genetics, 2025
Ultrasound combined with molecular genetics to diagnose hereditary Renpenning syndrome in early pregnancy: a case report.
Shen Y et al.
Frontiers in Genetics, 2025
Pathogenic variation underlying rare diseases in an Arab population: Implications for screening programs.
Jain R et al.
Genetics in Medicine Open, 2025
Molecular consequences of PQBP1 deficiency, involved in the X-linked Renpenning syndrome.
Courraud J et al.
Molecular Psychiatry, 2024
Prenatal evaluation of genetic variants in fetuses with small head circumference: A single-center retrospective study.
Liu J et al.
European Journal of Obstetrics, Gynecology, and Reproductive Biology, 2024
Contribution of genetic variants to congenital heart defects in both singleton and twin fetuses: a Chinese cohort study.
Lin S et al.
Molecular Cytogenetics, 2024
Preliminary investigation into the genetic etiology of short stature in children through whole exon sequencing of the core family.
He J et al.
Open Life Sciences, 2024
Postnatal genetic and neurodevelopmental assessment in infants born at term with severely low birth weight of non-placental origin.
Paz Y Miño MF et al.
Ultrasound in Obstetrics & Gynecology : the Official Journal of the International Society of Ultrasound in Obstetrics and Gynecology, 2023
Assessing clinical utility of preconception expanded carrier screening regarding residual risk for neurodevelopmental disorders.
Boonsawat P et al.
Npj Genomic Medicine, 2022
Genome-wide sequencing and the clinical diagnosis of genetic disease: The CAUSES study.
Elliott AM et al.
Hgg Advances, 2022
Implementation of Exome Sequencing in Prenatal Diagnosis and Impact on Genetic Counseling: The Polish Experience.
Kucińska-Chahwan A et al.
Genes, 2022
Novel diagnostic DNA methylation episignatures expand and refine the epigenetic landscapes of Mendelian disorders.
Levy MA et al.
Hgg Advances, 2022
Spectrum of neuro-genetic disorders in the United Arab Emirates national population.
Saleh S et al.
Clinical Genetics, 2021
Fatal Attraction: The Case of Toxic Soluble Dimers of Truncated PQBP-1 Mutants in X-Linked Intellectual Disability.
Chen YW et al.
International Journal of Molecular Sciences, 2021
Renpenning syndrome in a female.
Cho RY et al.
American Journal of Medical Genetics. Part A, 2020
Renpenning syndrome in an Indian patient.
Masih S et al.
American Journal of Medical Genetics. Part A, 2020
Induced pluripotent stem cells (iPSCs) derived from a renpenning syndrome patient with c.459_462delAGAG mutation in PQBP1 (PEIi001-A).
Fuchs NV et al.
Stem Cell Research, 2019
Elucidation of the phenotypic spectrum and genetic landscape in primary and secondary microcephaly.
Boonsawat P et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2019
Frameshift PQBP-1 mutants K192Sfs*7 and R153Sfs*41 implicated in X-linked intellectual disability form stable dimers.
Rahman SK et al.
Journal of Structural Biology, 2019
Rare Genetic Variation in 135 Families With Family History Suggestive of X-Linked Intellectual Disability.
Sanchis-Juan A et al.
Frontiers in Genetics, 2019
PQBP1, an intrinsically disordered/denatured protein at the crossroad of intellectual disability and neurodegenerative diseases.
Okazawa H
Neurochemistry International, 2018
Identification of candidate gene FAM183A and novel pathogenic variants in known genes: High genetic heterogeneity for autosomal recessive intellectual disability.
McSherry M et al.
Plos One, 2018
Mutations of PQBP1 in Renpenning syndrome promote ubiquitin-mediated degradation of FMRP and cause synaptic dysfunction.
Zhang XY et al.
Human Molecular Genetics, 2017
Targeted Next-Generation Sequencing Analysis of 1,000 Individuals with Intellectual Disability.
Grozeva D et al.
Human Mutation, 2015
Effectiveness of exome and genome sequencing guided by acuity of illness for diagnosis of neurodevelopmental disorders.
Soden SE et al.
Science Translational Medicine, 2014
The Renpenning syndrome spectrum: new clinical insights supported by 13 new PQBP1-mutated males.
Germanaud D et al.
Clinical Genetics, 2011
Common pathological mutations in PQBP1 induce nonsense-mediated mRNA decay and enhance exclusion of the mutant exon.
Musante L et al.
Human Mutation, 2010
X-linked mental retardation: further lumping, splitting and emerging phenotypes.
Kleefstra T et al.
Clinical Genetics, 2005
Renpenning syndrome comes into focus.
Stevenson RE et al.
American Journal of Medical Genetics. Part A, 2005
Novel truncating mutations in the polyglutamine tract binding protein 1 gene (PQBP1) cause Renpenning syndrome and X-linked mental retardation in another family with microcephaly.
Lenski C et al.
American Journal of Human Genetics, 2004