130 related articles for article (PubMed ID: 38423277)
1. Two siblings with PEX11B-related peroxisome biogenesis disorder.
Khoddam S; Kamal N; Shiri A; Jafari Khamirani H; Manoochehri J; Dianatpour M; Tabei SMB; Dastgheib SA
Eur J Med Genet; 2024 Apr; 68():104928. PubMed ID: 38423277
[TBL] [Abstract][Full Text] [Related]
2. Variant analysis of PEX11B gene from a family with peroxisome biogenesis disorder 14B by whole exome sequencing.
Tian Y; Zhang L; Li Y; Gao J; Yu H; Guo Y; Jia L
Mol Genet Genomic Med; 2020 Jan; 8(1):. PubMed ID: 31724321
[TBL] [Abstract][Full Text] [Related]
3. Novel PEX11B Mutations Extend the Peroxisome Biogenesis Disorder 14B Phenotypic Spectrum and Underscore Congenital Cataract as an Early Feature.
Taylor RL; Handley MT; Waller S; Campbell C; Urquhart J; Meynert AM; Ellingford JM; Donnelly D; Wilcox G; Lloyd IC; Mundy H; FitzPatrick DR; Deshpande C; Clayton-Smith J; Black GC
Invest Ophthalmol Vis Sci; 2017 Jan; 58(1):594-603. PubMed ID: 28129423
[TBL] [Abstract][Full Text] [Related]
4. A novel defect of peroxisome division due to a homozygous non-sense mutation in the PEX11β gene.
Ebberink MS; Koster J; Visser G; Spronsen Fv; Stolte-Dijkstra I; Smit GP; Fock JM; Kemp S; Wanders RJ; Waterham HR
J Med Genet; 2012 May; 49(5):307-13. PubMed ID: 22581968
[TBL] [Abstract][Full Text] [Related]
5. ZNF142 mutation causes neurodevelopmental disorder with speech impairment and seizures: Novel variants and literature review.
Kamal N; Khamirani HJ; Mohammadi S; Dastgheib SA; Dianatpour M; Tabei SMB
Eur J Med Genet; 2022 Jul; 65(7):104522. PubMed ID: 35618198
[TBL] [Abstract][Full Text] [Related]
6. Twins with PEX7 related intellectual disability and cataract: Highlighting phenotypes of peroxisome biogenesis disorder 9B.
Masih S; Moirangthem A; Phadke SR
Am J Med Genet A; 2021 May; 185(5):1504-1508. PubMed ID: 33586206
[TBL] [Abstract][Full Text] [Related]
7. Locus heterogeneity in two siblings presenting with developmental delay, intellectual disability and autism spectrum disorder.
Brugger M; Brunet T; Wagner M; Orec LE; Schwaibold EMC; Boy N
Gene; 2021 Feb; 768():145260. PubMed ID: 33164824
[TBL] [Abstract][Full Text] [Related]
8. Whole exome sequencing identifies a novel compound heterozygous GFM1 variant underlying developmental delay, dystonia, polymicrogyria, and severe intellectual disability in a Pakhtun family.
Khan AU; Khan I; Khan MI; Latif M; Siddiqui MI; Khan SU; Htar TT; Wahid G; Ullah I; Bibi F; Khan A; Naseer MI; Seo GH; Jelani M
Am J Med Genet A; 2022 Sep; 188(9):2693-2700. PubMed ID: 35703069
[TBL] [Abstract][Full Text] [Related]
9. First PEX11β patient extends spectrum of peroxisomal biogenesis disorder phenotypes.
Thoms S; Gärtner J
J Med Genet; 2012 May; 49(5):314-6. PubMed ID: 22581969
[TBL] [Abstract][Full Text] [Related]
10. Clinical and Genetic Characteristics of Splicing Variant in CYP27A1 in an Iranian Family with Cerebrotendinous Xanthomatosis.
Rashvand Z; Kahrizi K; Najmabadi H; Najafipour R; Omrani MD
Iran Biomed J; 2021 Mar; 25(2):132-9. PubMed ID: 33400472
[TBL] [Abstract][Full Text] [Related]
11. Novel compound heterozygous variant of
Lin Y; Chen X; Liang C; Li D; Liu L; Li X
Eur J Ophthalmol; 2023 Sep; 33(5):NP1-NP4. PubMed ID: 36262071
[TBL] [Abstract][Full Text] [Related]
12. Novel exon-skipping variant disrupting the basic domain of HCFC1 causes intellectual disability without metabolic abnormalities in both male and female patients.
Wongkittichote P; Wegner DJ; Shinawi MS
J Hum Genet; 2021 Jul; 66(7):717-724. PubMed ID: 33517344
[TBL] [Abstract][Full Text] [Related]
13. Novel variants underlying autosomal recessive neurodevelopmental disorders with intellectual disability in Iranian consanguineous families.
Moudi M; Vahidi Mehrjardi MY; Hozhabri H; Metanat Z; Kalantar SM; Taheri M; Ghasemi N; Dehghani M
J Clin Lab Anal; 2022 Feb; 36(2):e24241. PubMed ID: 35019165
[TBL] [Abstract][Full Text] [Related]
14. A combination of two novels homozygous FCSK variants cause disorder of glycosylation with defective fucosylation: New patient and literature review.
Manoochehri J; Kamal N; Khamirani HJ; Zoghi S; Haghighi MF; Goodarzi HR; Bagher Tabei SM
Eur J Med Genet; 2022 Aug; 65(8):104535. PubMed ID: 35718084
[TBL] [Abstract][Full Text] [Related]
15. A Novel Mutation in PEX11β Gene.
Malekzadeh H; Shakiba M; Yasaei M
Iran J Child Neurol; 2021; 15(1):93-100. PubMed ID: 33558817
[TBL] [Abstract][Full Text] [Related]
16. Martsolf syndrome with novel mutation in the TBC1D20 gene in a family from Iran.
Hozhabri H; Talebi M; Mehrjardi MYV; De Luca A; Dehghani M
Am J Med Genet A; 2020 May; 182(5):957-961. PubMed ID: 32162791
[TBL] [Abstract][Full Text] [Related]
17. A deleterious frameshift insertion mutation in the ZNF142 gene leads to intellectual developmental disorder with impaired speech in three affected siblings: Clinical features and literature review.
Mir A; Song Y; Lee H; Montazer-Zohouri M; Reisi M; Tabatabaiefar MA
Mol Genet Genomic Med; 2023 Dec; 11(12):e2261. PubMed ID: 37496384
[TBL] [Abstract][Full Text] [Related]
18. Atypical PEX16 peroxisome biogenesis disorder with mild biochemical disruptions and long survival.
Zaabi NA; Kendi A; Al-Jasmi F; Takashima S; Shimozawa N; Al-Dirbashi OY
Brain Dev; 2019 Jan; 41(1):57-65. PubMed ID: 30078639
[TBL] [Abstract][Full Text] [Related]
19. Case report of four siblings in southeast Turkey with a novel RAB3GAP2 splice site mutation: Warburg micro syndrome or Martsolf syndrome?
Gumus E
Ophthalmic Genet; 2018 Jun; 39(3):391-395. PubMed ID: 29419336
[TBL] [Abstract][Full Text] [Related]
20. Biallelic INTS1 Mutations Cause a Rare Neurodevelopmental Disorder in Two Chinese Siblings.
Zhang X; Wang Y; Yang F; Tang J; Xu X; Yang L; Yang XA; Wu D
J Mol Neurosci; 2020 Jan; 70(1):1-8. PubMed ID: 31428919
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]