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 *

140 related articles for article (PubMed ID: 31400139)

  • 1. [X-linked mental retardation combined with autism caused by a novel hemizygous mutation of GRIA3 gene].
    Bai Z; Kong X
    Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2019 Aug; 36(8):829-833. PubMed ID: 31400139
    [TBL] [Abstract][Full Text] [Related]  

  • 2. [Analysis of a patient with X-linked mental retardation by next generation sequencing].
    Lyu Y; Yang Y; Liu Y; Gai Z
    Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2018 Apr; 35(2):257-260. PubMed ID: 29653005
    [TBL] [Abstract][Full Text] [Related]  

  • 3. [Clinical phenotype and genetic analysis of a Chinese patient featuring X-linked Claes-Jensen type syndromic mental retardation].
    Gao M; Xing M; Zhang K; Lyu Y; Ma J; Gai Z; Liu Y
    Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2020 Jul; 37(7):736-738. PubMed ID: 32619253
    [TBL] [Abstract][Full Text] [Related]  

  • 4. [Clinical and genetic analysis of a child with X-linked mental retardation due to variant of SLC9A7 gene].
    Li W; Fu T; Tamang S; Wang Y; Wang H; Zhuo Z
    Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2024 Jun; 41(6):730-733. PubMed ID: 38818559
    [TBL] [Abstract][Full Text] [Related]  

  • 5. A novel missense mutation in ATRX uncovered in a Yemeni family leads to alpha-thalassemia/mental retardation syndrome without alpha-thalassemia.
    Hamzeh AR; Nair P; Mohamed M; Saif F; Tawfiq N; Al-Ali MT; Bastaki F
    Ir J Med Sci; 2017 May; 186(2):333-337. PubMed ID: 26860117
    [TBL] [Abstract][Full Text] [Related]  

  • 6. Clinical spectrum of KIAA2022/NEXMIF pathogenic variants in males and females: Report of three patients from Indian kindred with a review of published patients.
    Panda PK; Sharawat IK; Joshi K; Dawman L; Bolia R
    Brain Dev; 2020 Oct; 42(9):646-654. PubMed ID: 32600841
    [TBL] [Abstract][Full Text] [Related]  

  • 7. Partial tandem duplication of GRIA3 in a male with mental retardation.
    Chiyonobu T; Hayashi S; Kobayashi K; Morimoto M; Miyanomae Y; Nishimura A; Nishimoto A; Ito C; Imoto I; Sugimoto T; Jia Z; Inazawa J; Toda T
    Am J Med Genet A; 2007 Jul; 143A(13):1448-55. PubMed ID: 17568425
    [TBL] [Abstract][Full Text] [Related]  

  • 8. Variable White Matter Atrophy and Intellectual Development in a Family With X-linked Creatine Transporter Deficiency Despite Genotypic Homogeneity.
    Heussinger N; Saake M; Mennecke A; Dörr HG; Trollmann R
    Pediatr Neurol; 2017 Feb; 67():45-52. PubMed ID: 28065824
    [TBL] [Abstract][Full Text] [Related]  

  • 9. Aberrant GRIA3 transcripts with multi-exon duplications in a family with X-linked mental retardation.
    Bonnet C; Leheup B; Béri M; Philippe C; Grégoire MJ; Jonveaux P
    Am J Med Genet A; 2009 Jun; 149A(6):1280-9. PubMed ID: 19449417
    [TBL] [Abstract][Full Text] [Related]  

  • 10. [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]  

  • 11. X-linked mental retardation and autism are associated with a mutation in the NLGN4 gene, a member of the neuroligin family.
    Laumonnier F; Bonnet-Brilhault F; Gomot M; Blanc R; David A; Moizard MP; Raynaud M; Ronce N; Lemonnier E; Calvas P; Laudier B; Chelly J; Fryns JP; Ropers HH; Hamel BC; Andres C; Barthélémy C; Moraine C; Briault S
    Am J Hum Genet; 2004 Mar; 74(3):552-7. PubMed ID: 14963808
    [TBL] [Abstract][Full Text] [Related]  

  • 12. [Diagnosis of a case with mental retardation due to novel compound heterozygous variants of TRAPPC9 gene].
    Bai Z; Kong X
    Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2019 Nov; 36(11):1115-1119. PubMed ID: 31703139
    [TBL] [Abstract][Full Text] [Related]  

  • 13. [Identification of a c.1A>G initial codon variation of ARX gene in a child with severe mental retardation].
    Shen X; Qi F; Gu C
    Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2020 Feb; 37(2):131-134. PubMed ID: 32034737
    [TBL] [Abstract][Full Text] [Related]  

  • 14. Exploring the potential role of disease-causing mutation in a gene desert: duplication of noncoding elements 5' of GRIA3 is associated with GRIA3 silencing and X-linked intellectual disability.
    Bonnet C; Masurel-Paulet A; Khan AA; Béri-Dexheimer M; Callier P; Mugneret F; Philippe C; Thauvin-Robinet C; Faivre L; Jonveaux P
    Hum Mutat; 2012 Feb; 33(2):355-8. PubMed ID: 22124977
    [TBL] [Abstract][Full Text] [Related]  

  • 15. [Clinical features and gene variant of a pedigree affected with X-linked recessive mental retardation Claes-Jensen type].
    Ding N; Zhang P; Mao Y; Feng S; Gao Z; Chen Q; Zhang X
    Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2020 Dec; 37(12):1352-1355. PubMed ID: 33306820
    [TBL] [Abstract][Full Text] [Related]  

  • 16. [Analysis of a child with X-linked mental retardation due to a de novo variant of DDX3X gene].
    Wang Q; Yang Y; Liu L; Tie X; Lei H; Zhang L; Che F
    Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2022 Oct; 39(10):1111-1115. PubMed ID: 36184094
    [TBL] [Abstract][Full Text] [Related]  

  • 17. Mutations in autism susceptibility candidate 2 (AUTS2) in patients with mental retardation.
    Kalscheuer VM; FitzPatrick D; Tommerup N; Bugge M; Niebuhr E; Neumann LM; Tzschach A; Shoichet SA; Menzel C; Erdogan F; Arkesteijn G; Ropers HH; Ullmann R
    Hum Genet; 2007 May; 121(3-4):501-9. PubMed ID: 17211639
    [TBL] [Abstract][Full Text] [Related]  

  • 18. [Analysis of IQSEC2 gene variant in a child with X-linked mental retardation].
    Zhao J; Yang X; Li J; Wang H; Zhang W; Fang F
    Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2022 Apr; 39(4):421-424. PubMed ID: 35446980
    [TBL] [Abstract][Full Text] [Related]  

  • 19. Recessive DEAF1 mutation associates with autism, intellectual disability, basal ganglia dysfunction and epilepsy.
    Rajab A; Schuelke M; Gill E; Zwirner A; Seifert F; Morales Gonzalez S; Knierim E
    J Med Genet; 2015 Sep; 52(9):607-11. PubMed ID: 26048982
    [TBL] [Abstract][Full Text] [Related]  

  • 20. The ARX story (epilepsy, mental retardation, autism, and cerebral malformations): one gene leads to many phenotypes.
    Sherr EH
    Curr Opin Pediatr; 2003 Dec; 15(6):567-71. PubMed ID: 14631200
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 7.