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 *

165 related articles for article (PubMed ID: 36972932)

  • 1. [Clinical characteristics and genetic variant analysis of a child with Snijders Blok-Campeau syndrome].
    Li Y; Wang X; Liu M; Gao Y; Chen B; Mei D; Zhang H; Gao C
    Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2023 Apr; 40(4):402-407. PubMed ID: 36972932
    [TBL] [Abstract][Full Text] [Related]  

  • 2. Snijders Blok-Campeau syndrome caused by
    Fan XY
    Zhongguo Dang Dai Er Ke Za Zhi; 2021 Sept 15; 23(9):965-968. PubMed ID: 34535214
    [TBL] [Abstract][Full Text] [Related]  

  • 3. A novel CHD3 variant in a patient with central precocious puberty: Expanded phenotype of Snijders Blok-Campeau syndrome?
    LeBreton L; Allain EP; Parscan RC; Crapoulet N; Almaghraby A; Ben Amor M
    Am J Med Genet A; 2023 Apr; 191(4):1065-1069. PubMed ID: 36565043
    [TBL] [Abstract][Full Text] [Related]  

  • 4. Snijders Blok-Campeau Syndrome: Description of 20 Additional Individuals with Variants in
    Pascual P; Tenorio-Castano J; Mignot C; Afenjar A; Arias P; Gallego-Zazo N; Parra A; Miranda L; Cazalla M; Silván C; Heron D; Keren B; Popa I; Palomares M; Rikeros E; Ramos FJ; Almoguera B; Ayuso C; Swafiri ST; Barbero AIS; Srinivasan VM; Gowda VK; Morleo M; Nigro V; D'Arrigo S; Ciaccio C; Martin Mesa C; Paumard B; Guillen G; Anton ATS; Jimenez MD; Seidel V; Suárez J; Cormier-Daire V; Consortium TS; Nevado J; Lapunzina P
    Genes (Basel); 2023 Aug; 14(9):. PubMed ID: 37761804
    [TBL] [Abstract][Full Text] [Related]  

  • 5. Inherited variants in CHD3 show variable expressivity in Snijders Blok-Campeau syndrome.
    van der Spek J; den Hoed J; Snijders Blok L; Dingemans AJM; Schijven D; Nellaker C; Venselaar H; Astuti GDN; Barakat TS; Bebin EM; Beck-Wödl S; Beunders G; Brown NJ; Brunet T; Brunner HG; Campeau PM; Čuturilo G; Gilissen C; Haack TB; Hüning I; Husain RA; Kamien B; Lim SC; Lovrecic L; Magg J; Maver A; Miranda V; Monteil DC; Ockeloen CW; Pais LS; Plaiasu V; Raiti L; Richmond C; Rieß A; Schwaibold EMC; Simon MEH; Spranger S; Tan TY; Thompson ML; de Vries BBA; Wilkins EJ; Willemsen MH; Francks C; Vissers LELM; Fisher SE; Kleefstra T
    Genet Med; 2022 Jun; 24(6):1283-1296. PubMed ID: 35346573
    [TBL] [Abstract][Full Text] [Related]  

  • 6. [Phenotypic and genetic analysis of a Chinese pedigree affected with Oral-facial-digital syndrome].
    Cheng Q; Chu W; Huo P; Shi Z; Zheng Z; Wang J; Gao J
    Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2023 Feb; 40(2):208-212. PubMed ID: 36709942
    [TBL] [Abstract][Full Text] [Related]  

  • 7. A de novo CHD3 variant in a child with intellectual disability, autism, joint laxity, and dysmorphisms.
    Mizukami M; Ishikawa A; Miyazaki S; Tsuzuki A; Saito S; Niihori T; Sakurai A
    Brain Dev; 2021 Apr; 43(4):563-565. PubMed ID: 33358638
    [TBL] [Abstract][Full Text] [Related]  

  • 8. [Genetic analysis of a child with Focal segmental glomerulosclerosis and neurodevelopmental syndrome].
    Sun X; Xin M; Tian J; Zhang Y; Jiao Q; Yang Y; Liu J
    Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2023 Sep; 40(9):1155-1159. PubMed ID: 37643965
    [TBL] [Abstract][Full Text] [Related]  

  • 9. [Analysis of genetic variant in a child with Aspartylglucosaminuria].
    Gao A; Deng W; Yang Y; Liu Y; Wen J
    Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2023 Jan; 40(1):87-91. PubMed ID: 36585008
    [TBL] [Abstract][Full Text] [Related]  

  • 10. [Compound heterozygous NDUFS1 variants identified in a Chinese pedigree affected with mitochondrial respiratory chain complex I deficiency].
    Gao C; Chen B; Gao Y; Zhang H; Shi L; Li W; Li H; Huang J
    Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2021 Mar; 38(3):247-250. PubMed ID: 33751534
    [TBL] [Abstract][Full Text] [Related]  

  • 11. [Genetic analysis of a Chinese pedigree with Lesch-Nyhan syndrome].
    Wang D; Zhao J; Teng J; Li W; Zhao X; Li L
    Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2023 Jun; 40(6):723-726. PubMed ID: 37212010
    [TBL] [Abstract][Full Text] [Related]  

  • 12. [Analysis of genetic variant in a child with Pitt-Hopkins syndrome].
    Zhu S; Zhang Y; Zhang Y
    Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2023 Dec; 40(12):1556-1559. PubMed ID: 37994142
    [TBL] [Abstract][Full Text] [Related]  

  • 13. [Clinical features and genetic analysis of a case of Wiedemann-Steiner syndrome due to variant of KMT2A gene].
    Ai Q; Chen Y; Chen S
    Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2023 Feb; 40(2):222-225. PubMed ID: 36709945
    [TBL] [Abstract][Full Text] [Related]  

  • 14. Hypersociability associated with developmental delay, macrocephaly and facial dysmorphism points to CHD3 mutations.
    Coursimault J; Lecoquierre F; Saugier-Veber P; Drouin-Garraud V; Lechevallier J; Boland A; Deleuze JF; Frebourg T; Nicolas G; Brehin AC
    Eur J Med Genet; 2021 Apr; 64(4):104166. PubMed ID: 33571694
    [TBL] [Abstract][Full Text] [Related]  

  • 15. [Analysis of MYRF gene variant in a fetus with Cardiac-urogenital syndrome].
    Sun H; Zhang H; He Y
    Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2023 May; 40(5):563-567. PubMed ID: 37102290
    [TBL] [Abstract][Full Text] [Related]  

  • 16. [Clinical characteristics and genetic analysis of a Chinese pedigree affected with Alström syndrome].
    Bai Z; Li G; Wu Q; Kong X
    Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2023 Sep; 40(9):1124-1127. PubMed ID: 37643959
    [TBL] [Abstract][Full Text] [Related]  

  • 17. [Analysis of a child with X-linked intellectual disability due to a maternal de novo splicing variant of the PAK3 gene].
    Wang C; Qiu X; Hu H; Jin B; Cheng Y; Zhao Y; Zhou C; Ma L; Zhang Y; Zheng F
    Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2023 Jul; 40(7):865-870. PubMed ID: 37368392
    [TBL] [Abstract][Full Text] [Related]  

  • 18. [A case of Rubinstein-Taybi syndrome caused by a variant of EP300 gene].
    Yang B; Chen T
    Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2023 Mar; 40(3):360-363. PubMed ID: 36854415
    [TBL] [Abstract][Full Text] [Related]  

  • 19. A severe neurocognitive phenotype caused by biallelic CHD3 variants in two siblings.
    Goldfarb Yaacobi R; Sukenik Halevy R
    Am J Med Genet A; 2024 Apr; 194(4):e63503. PubMed ID: 38116750
    [TBL] [Abstract][Full Text] [Related]  

  • 20. [Genetic analysis of a child with Pitt-Hopkins syndrome due to a novel variant of TCF4 gene derived from low percentage maternal mosaicism].
    Tang J; Ling J; Zhang C; Hao S; Ma J; Li J; Zhao L; Wang Y; Hui L
    Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2023 Jun; 40(6):680-685. PubMed ID: 37212002
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 9.