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 *

141 related articles for article (PubMed ID: 24690939)

  • 1. A deletion including exon 2 of the TSHR gene is associated with thyroid dysgenesis and severe congenital hypothyroidism.
    Cangul H; Schoenmakers NA; Saglam H; Doganlar D; Saglam Y; Eren E; Kendall M; Tarim O; Barrett TG; Chatterjee K; Maher ER
    J Pediatr Endocrinol Metab; 2014 Jul; 27(7-8):731-5. PubMed ID: 24690939
    [TBL] [Abstract][Full Text] [Related]  

  • 2. An essential splice site mutation (c.317+1G>A) in the TSHR gene leads to severe thyroid dysgenesis.
    Cangul H; Saglam H; Saglam Y; Eren E; Dogan D; Kendall M; Tarim O; Maher ER; Barrett TG
    J Pediatr Endocrinol Metab; 2014 Sep; 27(9-10):1021-5. PubMed ID: 24859513
    [TBL] [Abstract][Full Text] [Related]  

  • 3. TSHR is the main causative locus in autosomal recessively inherited thyroid dysgenesis.
    Cangul H; Aycan Z; Saglam H; Forman JR; Cetinkaya S; Tarim O; Bober E; Cesur Y; Kurtoglu S; Darendeliler F; Bas V; Eren E; Demir K; Kiraz A; Aydin BK; Karthikeyan A; Kendall M; Boelaert K; Shaw NJ; Kirk J; Högler W; Barrett TG; Maher ER
    J Pediatr Endocrinol Metab; 2012; 25(5-6):419-26. PubMed ID: 22876533
    [TBL] [Abstract][Full Text] [Related]  

  • 4. [Pathogenic
    Shreder EV; Vadina TA; Solodovnikova EN; Zakharova VV; Degtyarev MV; Konyukhova MB; Sergeeva NV; Bezlepkina OB
    Probl Endokrinol (Mosk); 2023 Feb; 69(1):76-85. PubMed ID: 36842079
    [TBL] [Abstract][Full Text] [Related]  

  • 5. Functional characterization of the novel sequence variant p.S304R in the hinge region of TSHR in a congenital hypothyroidism patients and analogy with other formerly known mutations of this gene portion.
    Cerqueira TL; Carré A; Chevrier L; Szinnai G; Tron E; Léger J; Cabrol S; Queinnec C; De Roux N; Castanet M; Polak M; Ramos HE
    J Pediatr Endocrinol Metab; 2015 Jul; 28(7-8):777-84. PubMed ID: 25153578
    [TBL] [Abstract][Full Text] [Related]  

  • 6. The genetic characteristics of congenital hypothyroidism in China by comprehensive screening of 21 candidate genes.
    Sun F; Zhang JX; Yang CY; Gao GQ; Zhu WB; Han B; Zhang LL; Wan YY; Ye XP; Ma YR; Zhang MM; Yang L; Zhang QY; Liu W; Guo CC; Chen G; Zhao SX; Song KY; Song HD
    Eur J Endocrinol; 2018 Jun; 178(6):623-633. PubMed ID: 29650690
    [TBL] [Abstract][Full Text] [Related]  

  • 7. Genetics of Gland-
    Zdraveska N; Kocova M; Nicholas AK; Anastasovska V; Schoenmakers N
    Front Endocrinol (Lausanne); 2020; 11():413. PubMed ID: 32765423
    [TBL] [Abstract][Full Text] [Related]  

  • 8. A nonsense thyrotropin receptor gene mutation (R609X) is associated with congenital hypothyroidism and heart defects.
    Cangul H; Bas VN; Saglam Y; Kendall M; Barrett TG; Maher ER; Aycan Z
    J Pediatr Endocrinol Metab; 2014 Nov; 27(11-12):1101-5. PubMed ID: 24945425
    [TBL] [Abstract][Full Text] [Related]  

  • 9. Molecular Analysis of Congenital Hypothyroidism in Saudi Arabia: SLC26A7 Mutation Is a Novel Defect in Thyroid Dyshormonogenesis.
    Zou M; Alzahrani AS; Al-Odaib A; Alqahtani MA; Babiker O; Al-Rijjal RA; BinEssa HA; Kattan WE; Al-Enezi AF; Al Qarni A; Al-Faham MSA; Baitei EY; Alsagheir A; Meyer BF; Shi Y
    J Clin Endocrinol Metab; 2018 May; 103(5):1889-1898. PubMed ID: 29546359
    [TBL] [Abstract][Full Text] [Related]  

  • 10. Next-generation sequencing analysis of TSHR in 384 Chinese subclinical congenital hypothyroidism (CH) and CH patients.
    Fu C; Wang J; Luo S; Yang Q; Li Q; Zheng H; Hu X; Su J; Zhang S; Chen R; Luo J; Zhang Y; Shen Y; Wei H; Meng D; Gui B; Zeng Z; Fan X; Chen S
    Clin Chim Acta; 2016 Nov; 462():127-132. PubMed ID: 27637299
    [TBL] [Abstract][Full Text] [Related]  

  • 11. Thyrotropin receptor and thyroid transcription factor-1 genes variant in Chinese children with congenital hypothyroidism.
    Yuan ZF; Mao HQ; Luo YF; Wu YD; Shen Z; Zhao ZY
    Endocr J; 2008 May; 55(2):415-23. PubMed ID: 18379122
    [TBL] [Abstract][Full Text] [Related]  

  • 12. Identification of deletions in children with congenital hypothyroidism and thyroid dysgenesis with the use of multiplex ligation-dependent probe amplification.
    Kumorowicz-Czoch M; Madetko-Talowska A; Tylek-Lemanska D; Pietrzyk JJ; Starzyk J
    J Pediatr Endocrinol Metab; 2015 Jan; 28(1-2):171-6. PubMed ID: 25153580
    [TBL] [Abstract][Full Text] [Related]  

  • 13. The R450H mutation and D727E polymorphism of the thyrotropin receptor gene in a Chinese child with congenital hypothyroidism.
    Ma SG; Fang PH; Hong B; Yu WN
    J Pediatr Endocrinol Metab; 2010 Dec; 23(12):1339-44. PubMed ID: 21714469
    [TBL] [Abstract][Full Text] [Related]  

  • 14. Next-generation sequencing of NKX2.1, FOXE1, PAX8, NKX2.5, and TSHR in 100 Chinese patients with congenital hypothyroidism and athyreosis.
    Wang F; Liu C; Jia X; Liu X; Xu Y; Yan S; Jia X; Huang Z; Liu S; Gu M
    Clin Chim Acta; 2017 Jul; 470():36-41. PubMed ID: 28455095
    [TBL] [Abstract][Full Text] [Related]  

  • 15. [Thyrotropin receptor gene inactivating mutation in Chinese children with congenital hypothyroidism].
    Yuan ZF; Luo YF; Wu YD; Shen Z; Zhao ZY
    Zhonghua Er Ke Za Zhi; 2007 Jul; 45(7):508-12. PubMed ID: 17953807
    [TBL] [Abstract][Full Text] [Related]  

  • 16. Screening of 23 candidate genes by next-generation sequencing of patients with permanent congenital hypothyroidism: novel variants in TG, TSHR, DUOX2, FOXE1, and SLC26A7.
    Acar S; Gürsoy S; Arslan G; Nalbantoğlu Ö; Hazan F; Köprülü Ö; Özkaya B; Özkan B
    J Endocrinol Invest; 2022 Apr; 45(4):773-786. PubMed ID: 34780050
    [TBL] [Abstract][Full Text] [Related]  

  • 17. Identification of southern Taiwan genetic variants in thyroid dyshormonogenesis through whole-exome sequencing.
    Tsai CC; Chang YM; Chou YY; Chen SY; Pan YW; Tsai MC
    Kaohsiung J Med Sci; 2024 Aug; 40(8):744-756. PubMed ID: 38923290
    [TBL] [Abstract][Full Text] [Related]  

  • 18. Biochemical, radiological, and genetic characterization of congenital hypothyroidism in Abu Dhabi, United Arab Emirates.
    Deeb A; Elkadry I; Attia S; Al Suwaidi H; Obaid L; Schoenmakers NA
    J Pediatr Endocrinol Metab; 2016 Jul; 29(7):801-6. PubMed ID: 27060741
    [TBL] [Abstract][Full Text] [Related]  

  • 19. Identification of a novel pax8 gene sequence variant in four members of the same family: from congenital hypothyroidism with thyroid hypoplasia to mild subclinical hypothyroidism.
    Vincenzi M; Camilot M; Ferrarini E; Teofoli F; Venturi G; Gaudino R; Cavarzere P; De Marco G; Agretti P; Dimida A; Tonacchera M; Boner A; Antoniazzi F
    BMC Endocr Disord; 2014 Aug; 14():69. PubMed ID: 25146893
    [TBL] [Abstract][Full Text] [Related]  

  • 20. One Base Deletion (c.2422delT) in the TPO Gene Causes Severe Congenital Hypothyroidism.
    Cangül H; Doğan M; Sağlam Y; Kendall M; Boelaert K; Barrett TG; Maher ER
    J Clin Res Pediatr Endocrinol; 2014 Sep; 6(3):169-73. PubMed ID: 25241611
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 8.