139 related articles for article (PubMed ID: 37463572)
1. A Novel RNPC3 Gene Variant Expands the Phenotype in Patients with Congenital Hypopituitarism and Neuropathy.
Yavas Abali Z; Gokpinar Ili E; Bas F; Ulak Ozkan M; Gulec Ç; Toksoy G; Ozturk AP; Karakilic Ozturan E; Aslanger A; Caliskan M; Yesil G; Poyrazoglu S; Darendeliler F; Oya Uyguner Z
Horm Res Paediatr; 2024; 97(2):157-164. PubMed ID: 37463572
[TBL] [Abstract][Full Text] [Related]
2. A homozygous Y443C variant in the RNPC3 is associated with severe syndromic congenital hypopituitarism and diffuse brain atrophy.
Bezen D; Kutlu O; Mouilleron S; Rizzoti K; Dattani M; Guran T; Yeşil G
Am J Med Genet A; 2022 Sep; 188(9):2701-2706. PubMed ID: 35792517
[TBL] [Abstract][Full Text] [Related]
3. Pathogenic variants in RNPC3 are associated with hypopituitarism and primary ovarian insufficiency.
Akin L; Rizzoti K; Gregory LC; Corredor B; Le Quesne Stabej P; Williams H; Buonocore F; Mouilleron S; Capra V; McGlacken-Byrne SM; Martos-Moreno GÁ; Azmanov DN; Kendirci M; Kurtoglu S; Suntharalingham JP; Galichet C; Gustincich S; Tasic V; Achermann JC; Accogli A; Filipovska A; Tuilpakov A; Maghnie M; Gucev Z; Gonen ZB; Pérez-Jurado LA; Robinson I; Lovell-Badge R; Argente J; Dattani MT
Genet Med; 2022 Feb; 24(2):384-397. PubMed ID: 34906446
[TBL] [Abstract][Full Text] [Related]
4. Expanding the phenotype of biallelic RNPC3 variants associated with growth hormone deficiency.
Verberne EA; Faries S; Mannens MMAM; Postma AV; van Haelst MM
Am J Med Genet A; 2020 Aug; 182(8):1952-1956. PubMed ID: 32462814
[TBL] [Abstract][Full Text] [Related]
5. Establishing intellectual disability as the key feature of patients with biallelic RNPC3 variants.
Yamada M; Ono M; Ishii T; Suzuki H; Uehara T; Takenouchi T; Kosaki K
Am J Med Genet A; 2021 Jun; 185(6):1836-1840. PubMed ID: 33650182
[TBL] [Abstract][Full Text] [Related]
6. Pathogenic copy number variants in patients with congenital hypopituitarism associated with complex phenotypes.
Correa FA; Jorge AA; Nakaguma M; Canton AP; Costa SS; Funari MF; Lerario AM; Franca MM; Carvalho LR; Krepischi AC; Arnhold IJ; Rosenberg C; Mendonca BB
Clin Endocrinol (Oxf); 2018 Mar; 88(3):425-431. PubMed ID: 29265571
[TBL] [Abstract][Full Text] [Related]
7. SALL4 Phenotype in Four Generations of One Family: An Interplay of the Upper Limb, Kidneys, and the Pituitary.
Kodytková A; Amaratunga SA; Zemková D; Maratová K; Dušátková P; Plachý L; Průhová Š; Koloušková S; Lebl J
Horm Res Paediatr; 2024; 97(2):203-210. PubMed ID: 37611564
[TBL] [Abstract][Full Text] [Related]
8. Expanding the genetic and clinical spectrum of the NONO-associated X-linked intellectual disability syndrome.
Carlston CM; Bleyl SB; Andrews A; Meyers L; Brown S; Bayrak-Toydemir P; Bale JF; Botto LD
Am J Med Genet A; 2019 May; 179(5):792-796. PubMed ID: 30773818
[TBL] [Abstract][Full Text] [Related]
9. Hypogonadotropic hypogonadism due to variants in
Xu W; Plummer L; Quinton R; Swords F; Crowley WF; Seminara SB; Balasubramanian R
Cold Spring Harb Mol Case Stud; 2020 Jun; 6(3):. PubMed ID: 32376645
[TBL] [Abstract][Full Text] [Related]
10. Loss-of-Function Variants in TBC1D32 Underlie Syndromic Hypopituitarism.
Hietamäki J; Gregory LC; Ayoub S; Iivonen AP; Vaaralahti K; Liu X; Brandstack N; Buckton AJ; Laine T; Känsäkoski J; Hero M; Miettinen PJ; Varjosalo M; Wakeling E; Dattani MT; Raivio T
J Clin Endocrinol Metab; 2020 Jun; 105(6):1748-58. PubMed ID: 32060556
[TBL] [Abstract][Full Text] [Related]
11. Genetic diagnosis of congenital hypopituitarism in Turkish patients by a target gene panel: novel pathogenic variants in GHRHR, GLI2, LHX4 and POU1F1 genes.
Kırkgöz T; Gürsoy S; Acar S; Nalbantoğlu Ö; Özkaya B; Anıl Korkmaz H; Hazan F; Özkan B
Arch Endocrinol Metab; 2023 Nov; 68():e220254. PubMed ID: 37948564
[TBL] [Abstract][Full Text] [Related]
12. Homozygous CDH2 variant may be associated with hypopituitarism without neurological disorders.
Ferreira NGBP; Madeira JLO; Gergics P; Kertsz R; Marques JM; Trigueiro NSS; Benedetti AFF; Azevedo BV; Fernandes BHV; Bissegatto DD; Biscotto IP; Fang Q; Ma Q; Ozel AB; Li J; Camper SA; Jorge AAL; Mendonça BB; Arnhold IJP; Carvalho LR
Endocr Connect; 2023 Jul; 12(8):. PubMed ID: 37166408
[TBL] [Abstract][Full Text] [Related]
13. Novel Lethal Form of Congenital Hypopituitarism Associated With the First Recessive LHX4 Mutation.
Gregory LC; Humayun KN; Turton JP; McCabe MJ; Rhodes SJ; Dattani MT
J Clin Endocrinol Metab; 2015 Jun; 100(6):2158-64. PubMed ID: 25871839
[TBL] [Abstract][Full Text] [Related]
14. Diabetes mellitus in an adolescent girl with intellectual disability caused by novel single base pair duplication in the PTRH2 gene: Expanding the clinical spectrum of IMNEPD.
Parida P; Dubbudu A; Biswal SR; Sharawat IK; Panda PK
Brain Dev; 2021 Feb; 43(2):314-319. PubMed ID: 33092935
[TBL] [Abstract][Full Text] [Related]
15. Digenic Inheritance of PROKR2 and WDR11 Mutations in Pituitary Stalk Interruption Syndrome.
McCormack SE; Li D; Kim YJ; Lee JY; Kim SH; Rapaport R; Levine MA
J Clin Endocrinol Metab; 2017 Jul; 102(7):2501-2507. PubMed ID: 28453858
[TBL] [Abstract][Full Text] [Related]
16. Allelic Variants in Established Hypopituitarism Genes Expand Our Knowledge of the Phenotypic Spectrum.
Nakaguma M; Ferreira NGBP; Benedetti AFF; Madi MC; Silva JM; Li JZ; Ma Q; Bilge Ozel A; Fang Q; Narcizo AM; Cardoso LC; Montenegro LR; Funari MFA; Nishi MY; Arnhold IJP; Jorge AAL; Mendonca BB; Camper SA; Carvalho LR
Genes (Basel); 2021 Jul; 12(8):. PubMed ID: 34440302
[TBL] [Abstract][Full Text] [Related]
17. Eighth case of Li-Campeau syndrome in a Turkish patient caused by a novel pathogenic variant in UBR7 and expanding the phenotype.
Edizadeh M; Kaymakcalan H; Valilou SF; Şahin Y
Am J Med Genet A; 2023 May; 191(5):1465-1469. PubMed ID: 36757286
[TBL] [Abstract][Full Text] [Related]
18. A novel dysfunctional LHX4 mutation with high phenotypical variability in patients with hypopituitarism.
Castinetti F; Saveanu A; Reynaud R; Quentien MH; Buffin A; Brauner R; Kaffel N; Albarel F; Guedj AM; El Kholy M; Amin M; Enjalbert A; Barlier A; Brue T
J Clin Endocrinol Metab; 2008 Jul; 93(7):2790-9. PubMed ID: 18445675
[TBL] [Abstract][Full Text] [Related]
19. Sonic Hedgehog mutations are not a common cause of congenital hypopituitarism in the absence of complex midline cerebral defects.
Paulo SS; Fernandes-Rosa FL; Turatti W; Coeli-Lacchini FB; Martinelli CE; Nakiri GS; Moreira AC; Santos AC; de Castro M; Antonini SR
Clin Endocrinol (Oxf); 2015 Apr; 82(4):562-9. PubMed ID: 25056824
[TBL] [Abstract][Full Text] [Related]
20. HESX1 mutations in patients with congenital hypopituitarism: variable phenotypes with the same genotype.
Fang Q; Benedetti AF; Ma Q; Gregory L; Li JZ; Dattani M; Sadeghi-Nejad A; Arnhold IJ; Mendonca BB; Camper SA; Carvalho LR
Clin Endocrinol (Oxf); 2016 Sep; 85(3):408-14. PubMed ID: 27000987
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]