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Journal Abstract Search

141 related items for PubMed ID: 31400139

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  • 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 10; 37(7):736-738. PubMed ID: 32619253
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  • 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 10; 42(9):646-654. PubMed ID: 32600841
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  • 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 10; 67():45-52. PubMed ID: 28065824
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  • 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 10; 74(3):552-7. PubMed ID: 14963808
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  • 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 10; 36(11):1115-1119. PubMed ID: 31703139
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  • 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 10; 37(12):1352-1355. PubMed ID: 33306820
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  • 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 10; 39(10):1111-1115. PubMed ID: 36184094
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  • 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 10; 121(3-4):501-9. PubMed ID: 17211639
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  • 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 10; 39(4):421-424. PubMed ID: 35446980
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