These tools will no longer be maintained as of December 31, 2024. Archived website can be found here. PubMed4Hh GitHub repository can be found here. Contact NLM Customer Service if you have questions.


BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

139 related articles for article (PubMed ID: 38956616)

  • 21. Biallelic pathogenic variants in the lanosterol synthase gene LSS involved in the cholesterol biosynthesis cause alopecia with intellectual disability, a rare recessive neuroectodermal syndrome.
    Besnard T; Sloboda N; Goldenberg A; Küry S; Cogné B; Breheret F; Trochu E; Conrad S; Vincent M; Deb W; Balguerie X; Barbarot S; Baujat G; Ben-Omran T; Bursztejn AC; Carmignac V; Datta AN; Delignières A; Faivre L; Gardie B; Guéant JL; Kuentz P; Lenglet M; Nassogne MC; Ramaekers V; Schnur RE; Si Y; Torti E; Thevenon J; Vabres P; Van Maldergem L; Wand D; Wiedemann A; Cariou B; Redon R; Lamazière A; Bézieau S; Feillet F; Isidor B
    Genet Med; 2019 Sep; 21(9):2025-2035. PubMed ID: 30723320
    [TBL] [Abstract][Full Text] [Related]  

  • 22. Insertion of 16 amino acids in the BAR domain of the oligophrenin 1 protein causes mental retardation and cerebellar hypoplasia in an Italian family.
    Pirozzi F; Di Raimo FR; Zanni G; Bertini E; Billuart P; Tartaglione T; Tabolacci E; Brancaccio A; Neri G; Chiurazzi P
    Hum Mutat; 2011 Nov; 32(11):E2294-307. PubMed ID: 21796728
    [TBL] [Abstract][Full Text] [Related]  

  • 23. A likely pathogenic variant putatively affecting splicing of PIGA identified in a multiple congenital anomalies hypotonia-seizures syndrome 2 (MCAHS2) family pedigree via whole-exome sequencing.
    Yang J; Wang Q; Zhuo Q; Tian H; Li W; Luo F; Zhang J; Bi D; Peng J; Zhou D; Xin H
    Mol Genet Genomic Med; 2018 Sep; 6(5):739-748. PubMed ID: 29974678
    [TBL] [Abstract][Full Text] [Related]  

  • 24. Dissecting the genotype in syndromic intellectual disability using whole exome sequencing in addition to genome-wide copy number analysis.
    Classen CF; Riehmer V; Landwehr C; Kosfeld A; Heilmann S; Scholz C; Kabisch S; Engels H; Tierling S; Zivicnjak M; Schacherer F; Haffner D; Weber RG
    Hum Genet; 2013 Jul; 132(7):825-41. PubMed ID: 23552953
    [TBL] [Abstract][Full Text] [Related]  

  • 25. 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]  

  • 26. A novel
    Iida A; Takano K; Takeshita E; Abe-Hatano C; Hirabayashi S; Inaba Y; Kosugi S; Kamatani Y; Momozawa Y; Kubo M; Nakagawa E; Inoue K; Goto YI
    Cold Spring Harb Mol Case Stud; 2019 Dec; 5(6):. PubMed ID: 31444167
    [TBL] [Abstract][Full Text] [Related]  

  • 27. ROCK/PKA Inhibition Rescues Hippocampal Hyperexcitability and GABAergic Neuron Alterations in a Oligophrenin-1 Knock-Out Mouse Model of X-Linked Intellectual Disability.
    Busti I; Allegra M; Spalletti C; Panzi C; Restani L; Billuart P; Caleo M
    J Neurosci; 2020 Mar; 40(13):2776-2788. PubMed ID: 32098904
    [TBL] [Abstract][Full Text] [Related]  

  • 28. Novel mutations of the X-linked genes associated with early-onset high myopia in five Chinese families.
    Zi F; Li Z; Cheng W; Huang X; Sheng X; Rong W
    BMC Med Genomics; 2023 Sep; 16(1):223. PubMed ID: 37749571
    [TBL] [Abstract][Full Text] [Related]  

  • 29. [Clinical and genetic analysis of a child with X-linked intellectual developmental disorder due to a novel variant of NEXMIF gene].
    Li Z; Liu K; Zhao X; Li L
    Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2024 Jul; 41(7):821-824. PubMed ID: 38946365
    [TBL] [Abstract][Full Text] [Related]  

  • 30. Christianson syndrome: A novel splicing variant of SLC9A6 causes exon skipping in a Chinese boy and a literature review.
    Zhang X; Wu X; Liu H; Song T; Jiang Y; He H; Yang S; Xie Y
    J Clin Lab Anal; 2022 Jan; 36(1):e24123. PubMed ID: 34791706
    [TBL] [Abstract][Full Text] [Related]  

  • 31. Exome sequencing discloses KALRN homozygous variant as likely cause of intellectual disability and short stature in a consanguineous pedigree.
    Makrythanasis P; Guipponi M; Santoni FA; Zaki M; Issa MY; Ansar M; Hamamy H; Antonarakis SE
    Hum Genomics; 2016 Jul; 10(1):26. PubMed ID: 27421267
    [TBL] [Abstract][Full Text] [Related]  

  • 32. [Genetic analysis of a Chinese pedigree with Cohen syndrome due to compound heterozygous variants of VPS13B gene].
    Zhang W; Qi N; Guo L; Wang H; Gao Y; Hou Q; Lou G
    Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2023 Aug; 40(8):966-972. PubMed ID: 37532496
    [TBL] [Abstract][Full Text] [Related]  

  • 33. A Novel X-Linked Variant of
    Choi MH; Yang JO; Min JS; Lee JJ; Jun SY; Lee YJ; Yoon JY; Jeon SJ; Byeon I; Kang JW; Kim NS
    Genet Test Mol Biomarkers; 2020 Jan; 24(1):54-58. PubMed ID: 31829726
    [No Abstract]   [Full Text] [Related]  

  • 34. Functional Analysis of a Compound Heterozygous Mutation in the VPS13B Gene in a Chinese Pedigree with Cohen Syndrome.
    Lou G; Ke Y; Zhang Y; Liangjie G; Shama SA; Qi N; Qin L; Liao S; Zhao Y
    J Mol Neurosci; 2021 May; 71(5):943-952. PubMed ID: 33025479
    [TBL] [Abstract][Full Text] [Related]  

  • 35. 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]  

  • 36. A novel splicing pathogenic variant in COL1A1 causing osteogenesis imperfecta (OI) type I in a Chinese family.
    Han Y; Wang D; Guo J; Xiong Q; Li P; Zhou YA; Zhao B
    Mol Genet Genomic Med; 2020 Sep; 8(9):e1366. PubMed ID: 32588564
    [TBL] [Abstract][Full Text] [Related]  

  • 37. Variants in HCFC1 and MN1 genes causing intellectual disability in two Pakistani families.
    Hussain SI; Muhammad N; Shah SA; Rehman AU; Khan SA; Saleha S; Khan YM; Muhammad N; Khan S; Wasif N
    BMC Med Genomics; 2024 Jul; 17(1):176. PubMed ID: 38956580
    [TBL] [Abstract][Full Text] [Related]  

  • 38. Intellectual disability and non-compaction cardiomyopathy with a de novo NONO mutation identified by exome sequencing.
    Reinstein E; Tzur S; Cohen R; Bormans C; Behar DM
    Eur J Hum Genet; 2016 Nov; 24(11):1635-1638. PubMed ID: 27329731
    [TBL] [Abstract][Full Text] [Related]  

  • 39. Mutated RAP1GDS1 causes a new syndrome of dysmorphic feature, intellectual disability & speech delay.
    Asiri A; Aloyouni E; Umair M; Alyafee Y; Al Tuwaijri A; Alhamoudi KM; Almuzzaini B; Al Baz A; Alwadaani D; Nashabat M; Alfadhel M
    Ann Clin Transl Neurol; 2020 Jun; 7(6):956-964. PubMed ID: 32431071
    [TBL] [Abstract][Full Text] [Related]  

  • 40. Novel compound heterozygous mutations in GPT2 linked to microcephaly, and intellectual developmental disability with or without spastic paraplegia.
    Kaymakcalan H; Yarman Y; Goc N; Toy F; Meral C; Ercan-Sencicek AG; Gunel M
    Am J Med Genet A; 2018 Feb; 176(2):421-425. PubMed ID: 29226631
    [TBL] [Abstract][Full Text] [Related]  

    [Previous]   [Next]    [New Search]
    of 7.