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 *

222 related articles for article (PubMed ID: 25153580)

  • 1. 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]  

  • 2. Genetic analysis of the paired box transcription factor (PAX8) gene in a cohort of Polish patients with primary congenital hypothyroidism and dysgenetic thyroid glands.
    Kumorowicz-Czoch M; Madetko-Talowska A; Dudek A; Tylek-Lemanska D
    J Pediatr Endocrinol Metab; 2015 Jul; 28(7-8):735-43. PubMed ID: 25720050
    [TBL] [Abstract][Full Text] [Related]  

  • 3. Screening for mutations in transcription factors in a Czech cohort of 170 patients with congenital and early-onset hypothyroidism: identification of a novel PAX8 mutation in dominantly inherited early-onset non-autoimmune hypothyroidism.
    Al Taji E; Biebermann H; Límanová Z; Hníková O; Zikmund J; Dame C; Grüters A; Lebl J; Krude H
    Eur J Endocrinol; 2007 May; 156(5):521-9. PubMed ID: 17468187
    [TBL] [Abstract][Full Text] [Related]  

  • 4. 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]  

  • 5. 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]  

  • 6. Further Evidence That Defects in Main Thyroid Dysgenesis-Related Genes Are an Uncommon Etiology for Primary Congenital Hypothyroidism in Mexican Patients: Report of Rare Variants in
    Alcántara-Ortigoza MA; Sánchez-Verdiguel I; Fernández-Hernández L; Enríquez-Flores S; González-Núñez A; Hernández-Martínez NL; Sánchez C; González-Del Angel A
    Children (Basel); 2021 May; 8(6):. PubMed ID: 34070861
    [TBL] [Abstract][Full Text] [Related]  

  • 7. Extreme phenotypic variability of thyroid dysgenesis in six new cases of congenital hypothyroidism due to PAX8 gene loss-of-function mutations.
    Ramos HE; Carré A; Chevrier L; Szinnai G; Tron E; Cerqueira TL; Léger J; Cabrol S; Puel O; Queinnec C; De Roux N; Guillot L; Castanet M; Polak M
    Eur J Endocrinol; 2014 Oct; 171(4):499-507. PubMed ID: 25214233
    [TBL] [Abstract][Full Text] [Related]  

  • 8. Transcription factor mutations and congenital hypothyroidism: systematic genetic screening of a population-based cohort of Japanese patients.
    Narumi S; Muroya K; Asakura Y; Adachi M; Hasegawa T
    J Clin Endocrinol Metab; 2010 Apr; 95(4):1981-5. PubMed ID: 20157192
    [TBL] [Abstract][Full Text] [Related]  

  • 9. Screening chromosomal aberrations by array comparative genomic hybridization in 80 patients with congenital hypothyroidism and thyroid dysgenesis.
    Thorwarth A; Mueller I; Biebermann H; Ropers HH; Grueters A; Krude H; Ullmann R
    J Clin Endocrinol Metab; 2010 Jul; 95(7):3446-52. PubMed ID: 20427504
    [TBL] [Abstract][Full Text] [Related]  

  • 10. Genetic testing of PAX8 mutations associated with thyroid dysgenesis in Chinese congenital hypothyroidism patients.
    Li M; Wang F; Wang X; Zang Y; Liu W; Wang F; Zhang L; Tang Q; Liu S; Zhao D
    Endokrynol Pol; 2020; 71(2):153-159. PubMed ID: 32096550
    [TBL] [Abstract][Full Text] [Related]  

  • 11. 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]  

  • 12. 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]  

  • 13. Clinical genetics of congenital hypothyroidism.
    Szinnai G
    Endocr Dev; 2014; 26():60-78. PubMed ID: 25231445
    [TBL] [Abstract][Full Text] [Related]  

  • 14. Identification of PENDRIN (SLC26A4) mutations in patients with congenital hypothyroidism and "apparent" thyroid dysgenesis.
    Kühnen P; Turan S; Fröhler S; Güran T; Abali S; Biebermann H; Bereket A; Grüters A; Chen W; Krude H
    J Clin Endocrinol Metab; 2014 Jan; 99(1):E169-76. PubMed ID: 24248179
    [TBL] [Abstract][Full Text] [Related]  

  • 15. Mutation screening in the genes PAX-8, NKX2-5, TSH-R, HES-1 in cohort of 63 Brazilian children with thyroid dysgenesis.
    Cerqueira TLO; Ramos YR; Strappa GB; Jesus MS; Santos JG; Sousa C; Carvalho G; Fernandes V; Boa-Sorte N; Amorim T; Silva TM; Ladeia AMT; Acosta AX; Ramos HE
    Arch Endocrinol Metab; 2018 Aug; 62(4):466-471. PubMed ID: 30304112
    [TBL] [Abstract][Full Text] [Related]  

  • 16. Multiplex Ligation-dependent Probe Amplification improves the detection rate of NKX2.1 mutations in patients affected by brain-lung-thyroid syndrome.
    Teissier R; Guillot L; Carré A; Morandini M; Stuckens C; Ythier H; Munnich A; Szinnai G; de Blic J; Clement A; Leger J; Castanet M; Epaud R; Polak M
    Horm Res Paediatr; 2012; 77(3):146-51. PubMed ID: 22488412
    [TBL] [Abstract][Full Text] [Related]  

  • 17. The molecular causes of thyroid dysgenesis: a systematic review.
    Nettore IC; Cacace V; De Fusco C; Colao A; Macchia PE
    J Endocrinol Invest; 2013 Sep; 36(8):654-64. PubMed ID: 23698639
    [TBL] [Abstract][Full Text] [Related]  

  • 18. DUOX2 Mutations Are Associated With Congenital Hypothyroidism With Ectopic Thyroid Gland.
    Kizys MML; Louzada RA; Mitne-Neto M; Jara JR; Furuzawa GK; de Carvalho DP; Dias-da-Silva MR; Nesi-França S; Dupuy C; Maciel RMB
    J Clin Endocrinol Metab; 2017 Nov; 102(11):4060-4071. PubMed ID: 28666341
    [TBL] [Abstract][Full Text] [Related]  

  • 19. Genetics of primary congenital hypothyroidism-a review.
    Kostopoulou E; Miliordos K; Spiliotis B
    Hormones (Athens); 2021 Jun; 20(2):225-236. PubMed ID: 33400193
    [TBL] [Abstract][Full Text] [Related]  

  • 20. Absence of mutations in PAX8, NKX2.5, and TSH receptor genes in patients with thyroid dysgenesis.
    Brust ES; Beltrao CB; Chammas MC; Watanabe T; Sapienza MT; Marui S
    Arq Bras Endocrinol Metabol; 2012 Apr; 56(3):173-7. PubMed ID: 22666732
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 12.