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 *

153 related articles for article (PubMed ID: 39217487)

  • 21. [Genetic diagnosis of Branchio-Oto syndrome pedigree due to a de novo heterozygous deletion of EYA1 gene].
    Li J; Kang H; Kong X
    Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2023 Sep; 40(9):1128-1133. PubMed ID: 37643960
    [TBL] [Abstract][Full Text] [Related]  

  • 22. Prenatal diagnosis and genetic analysis of a fetus with Branchio-oto-renal syndrome: A case report.
    Tang P; Li J; Li J; Yang J; Zhu J
    Medicine (Baltimore); 2022 Oct; 101(43):e31172. PubMed ID: 36316881
    [TBL] [Abstract][Full Text] [Related]  

  • 23. Ocular manifestations of branchio-oculo-facial syndrome: report of a novel mutation and review of the literature.
    Al-Dosari MS; Almazyad M; Al-Ebdi L; Mohamed JY; Al-Dahmash S; Al-Dhibi H; Al-Kahtani E; Al-Turkmani S; Alkuraya H; Hall BD; Alkuraya FS
    Mol Vis; 2010 May; 16():813-8. PubMed ID: 20461149
    [TBL] [Abstract][Full Text] [Related]  

  • 24. [Genetic analysis of a Chinese pedigree affected with Cowden syndrome due to variant of PTEN gene].
    Peng Z; Zhang C
    Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2024 Jul; 41(7):825-829. PubMed ID: 38946366
    [TBL] [Abstract][Full Text] [Related]  

  • 25. Additional clinical and molecular analyses of TFAP2A in patients with the branchio-oculo-facial syndrome.
    Reiber J; Sznajer Y; Posteguillo EG; Müller D; Lyonnet S; Baumann C; Just W
    Am J Med Genet A; 2010 Apr; 152A(4):994-9. PubMed ID: 20358615
    [TBL] [Abstract][Full Text] [Related]  

  • 26. [Clinical and genetic analysis of a Chinese pedigree affected with type 2 Long QT syndrome due to variant of KCNH2 gene].
    Yang H; Sun M; Liu J; Chen X; Xu X; Hu J; Yan L; Wu J
    Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2024 Oct; 41(10):1218-1224. PubMed ID: 39344617
    [TBL] [Abstract][Full Text] [Related]  

  • 27. [Analysis of ACADVL gene variant in a Chinese pedigree affected with Very-long-chain acl-CoA dehydrogenase deficiency].
    Ning H; Chai Y; Wang J; Wang Y
    Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2024 Oct; 41(10):1225-1230. PubMed ID: 39344618
    [TBL] [Abstract][Full Text] [Related]  

  • 28. Branchio-oculo-facial syndrome: a three generational family with markedly variable phenotype including neonatal lethality.
    Titheradge HL; Patel C; Ragge NK
    Clin Dysmorphol; 2015 Jan; 24(1):13-6. PubMed ID: 25325185
    [TBL] [Abstract][Full Text] [Related]  

  • 29. [Clinical phenotype and genetic analysis of a fetus with Cardiac valvular dysplasia type 1].
    Yan L; Cao J; Zhang Y; Li D; Liu Y; Yang X; Li H
    Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2024 Jan; 41(1):92-95. PubMed ID: 38171566
    [TBL] [Abstract][Full Text] [Related]  

  • 30. Analysis of TFAP2A mutations in Branchio-Oculo-Facial Syndrome indicates functional complexity within the AP-2α DNA-binding domain.
    Li H; Sheridan R; Williams T
    Hum Mol Genet; 2013 Aug; 22(16):3195-206. PubMed ID: 23578821
    [TBL] [Abstract][Full Text] [Related]  

  • 31. [Analysis of GNAS gene variant in a Chinese pedigree affected with pseudohypoparathyroidism].
    Li Q; Huang J; Dai X; He J; Li C; Wang Y; Liu H
    Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2023 Jan; 40(1):31-35. PubMed ID: 36584997
    [TBL] [Abstract][Full Text] [Related]  

  • 32. [Prenatal diagnosis for a fetus with Walker-Warburg syndrome].
    Ma P; Chen X; Hui L; Zhang Q; Zhang C; Hao S; Yang L; Wang X; Xu F; Zhou B
    Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2023 May; 40(5):572-576. PubMed ID: 37102292
    [TBL] [Abstract][Full Text] [Related]  

  • 33. [Genetic analysis of a fetus with Coffin-Siris syndrome 2 due to a novel variant of ARID1A gene].
    Chai Y; Wang J; Wang Y; Zhang P; Jin J; Wang Y
    Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2024 Oct; 41(10):1255-1258. PubMed ID: 39344623
    [TBL] [Abstract][Full Text] [Related]  

  • 34. Genotype-phenotype analysis of the branchio-oculo-facial syndrome.
    Milunsky JM; Maher TM; Zhao G; Wang Z; Mulliken JB; Chitayat D; Clemens M; Stalker HJ; Bauer M; Burch M; Chénier S; Cunningham ML; Drack AV; Janssens S; Karlea A; Klatt R; Kini U; Klein O; Lachmeijer AM; Megarbane A; Mendelsohn NJ; Meschino WS; Mortier GR; Parkash S; Ray CR; Roberts A; Roberts A; Reardon W; Schnur RE; Smith R; Splitt M; Tezcan K; Whiteford ML; Wong DA; Zori R; Lin AE
    Am J Med Genet A; 2011 Jan; 155A(1):22-32. PubMed ID: 21204207
    [TBL] [Abstract][Full Text] [Related]  

  • 35. [Genetic analysis of a Chinese pedigree affected with branchiootic syndrome due to a nonsense variant of EYA1 gene].
    Han R; Liu X; Ye E; Wu S; Zhao J; Duan L; Xia Y; Ding J
    Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2022 Apr; 39(4):374-377. PubMed ID: 35446969
    [TBL] [Abstract][Full Text] [Related]  

  • 36. [Genetic analysis of a fetus with Rhizomelic skeletal dysplasia].
    Ding Y; Wang T; Xiang J
    Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2024 Jul; 41(7):844-848. PubMed ID: 38946370
    [TBL] [Abstract][Full Text] [Related]  

  • 37. [Clinical characteristics and genetic analysis of a fetus with Melnick-Needles syndrome due to variant of FLNA gene].
    Zou J; Zhang Y; Liu Y; Xue A; Yan L; Li H
    Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2023 May; 40(5):582-587. PubMed ID: 37102294
    [TBL] [Abstract][Full Text] [Related]  

  • 38. [Genetic analysis of a Chinese pedigree featuring non-simplex blepharocheilodontic syndrome].
    Yan L; Liu Y; Zhang Y; Tian L; Cao J; Li H
    Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2023 Jan; 40(1):36-41. PubMed ID: 36584998
    [TBL] [Abstract][Full Text] [Related]  

  • 39. [Genetic testing and prenatal diagnosis for two Chinese pedigrees affected with Alport syndrome due to variants of COL4A5 gene].
    Ma Q; Che L; Kong X
    Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2023 Nov; 40(11):1356-1359. PubMed ID: 37906141
    [TBL] [Abstract][Full Text] [Related]  

  • 40. [Phenotypic and genetic analysis of a Chinese pedigree affected with type 1 Otopalatodigital syndrome].
    Zhang B; Xiang G; Xiang S; Zhang J
    Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2024 May; 41(5):556-560. PubMed ID: 38684300
    [TBL] [Abstract][Full Text] [Related]  

    [Previous]   [Next]    [New Search]
    of 8.