149 related articles for article (PubMed ID: 31751304)
1. Genetic investigation of patients with tall stature.
Vasco de Albuquerque Albuquerque E; Ferreira de Assis Funari M; Pereira de Souza Quedas E; Sayuri Honjo Kawahira R; Soares Jallad R; Homma TK; Martin RM; Brito VN; Malaquias AC; Lerario AM; Rosenberg C; Victorino Krepischi AC; Ae Kim C; Arnhold IJP; Jorge AAL
Eur J Endocrinol; 2020 Feb; 182(2):139-147. PubMed ID: 31751304
[TBL] [Abstract][Full Text] [Related]
2. Short stature homeobox-containing gene duplications in 3.7% of girls with tall stature and normal karyotypes.
Upners EN; Jensen RB; Rajpert-De Meyts E; Dunø M; Aksglaede L; Juul A
Acta Paediatr; 2017 Oct; 106(10):1651-1657. PubMed ID: 28667773
[TBL] [Abstract][Full Text] [Related]
3. Genetic analysis of tall stature.
Kant SG; Wit JM; Breuning MH
Horm Res; 2005; 64(3):149-56. PubMed ID: 16192740
[TBL] [Abstract][Full Text] [Related]
4. Evidence That Non-Syndromic Familial Tall Stature Has an Oligogenic Origin Including Ciliary Genes.
Weiss B; Eberle B; Roeth R; de Bruin C; Lui JC; Paramasivam N; Hinderhofer K; van Duyvenvoorde HA; Baron J; Wit JM; Rappold GA
Front Endocrinol (Lausanne); 2021; 12():660731. PubMed ID: 34194391
[TBL] [Abstract][Full Text] [Related]
5. Prevalence of SHOX haploinsufficiency among short statured children.
Marstrand-Joergensen MR; Jensen RB; Aksglaede L; Duno M; Juul A
Pediatr Res; 2017 Feb; 81(2):335-341. PubMed ID: 27814343
[TBL] [Abstract][Full Text] [Related]
6. High diagnostic yield of clinically unidentifiable syndromic growth disorders by targeted exome sequencing.
Kim YM; Lee YJ; Park JH; Lee HD; Cheon CK; Kim SY; Hwang JY; Jang JH; Yoo HW
Clin Genet; 2017 Dec; 92(6):594-605. PubMed ID: 28425089
[TBL] [Abstract][Full Text] [Related]
7. White-Sutton syndrome with hot water epilepsy and coexistence of SHOX gene variations.
Türay S; Eröz R
Acta Neurol Belg; 2021 Jun; 121(3):749-755. PubMed ID: 33837909
[TBL] [Abstract][Full Text] [Related]
8. Multigene Sequencing Analysis of Children Born Small for Gestational Age With Isolated Short Stature.
Freire BL; Homma TK; Funari MFA; Lerario AM; Vasques GA; Malaquias AC; Arnhold IJP; Jorge AAL
J Clin Endocrinol Metab; 2019 Jun; 104(6):2023-2030. PubMed ID: 30602027
[TBL] [Abstract][Full Text] [Related]
9. The Genetic Landscape of Children Born Small for Gestational Age with Persistent Short Stature.
Toni L; Plachy L; Dusatkova P; Amaratunga SA; Elblova L; Sumnik Z; Kolouskova S; Snajderova M; Obermannova B; Pruhova S; Lebl J
Horm Res Paediatr; 2024; 97(1):40-52. PubMed ID: 37019085
[TBL] [Abstract][Full Text] [Related]
10. Molecular genetic analysis and growth hormone response in patients with syndromic short stature.
Sun H; Li N; Wan N
BMC Med Genomics; 2021 Nov; 14(1):261. PubMed ID: 34740356
[TBL] [Abstract][Full Text] [Related]
11. Tall stature in children and adolescents.
Urakami T
Minerva Pediatr; 2020 Dec; 72(6):472-483. PubMed ID: 32748612
[TBL] [Abstract][Full Text] [Related]
12. Exome Sequencing Identifies Multiple Genetic Diagnoses in Children with Syndromic Growth Disorders.
Rezende RC; Menezes de Andrade NL; Branco Dantas NC; de Polli Cellin L; Victorino Krepischi AC; Lerario AM; de Lima Jorge AA
J Pediatr; 2024 Feb; 265():113841. PubMed ID: 37995928
[TBL] [Abstract][Full Text] [Related]
13. Genetic Characterization of Short Stature Patients With Overlapping Features of Growth Hormone Insensitivity Syndromes.
Andrews A; Maharaj A; Cottrell E; Chatterjee S; Shah P; Denvir L; Dumic K; Bossowski A; Mushtaq T; Vukovic R; Didi M; Shaw N; Metherell LA; Savage MO; Storr HL
J Clin Endocrinol Metab; 2021 Oct; 106(11):e4716-e4733. PubMed ID: 34136918
[TBL] [Abstract][Full Text] [Related]
14. Pseudoautosomal abnormalities in terminal AZFb+c deletions are associated with isochromosomes Yp and may lead to abnormal growth and neuropsychiatric function.
Castro A; Rodríguez F; Flórez M; López P; Curotto B; Martínez D; Maturana A; Lardone MC; Palma C; Mericq V; Ebensperger M; Cassorla F
Hum Reprod; 2017 Feb; 32(2):465-475. PubMed ID: 28057878
[TBL] [Abstract][Full Text] [Related]
15. Large-scale pooled next-generation sequencing of 1077 genes to identify genetic causes of short stature.
Wang SR; Carmichael H; Andrew SF; Miller TC; Moon JE; Derr MA; Hwa V; Hirschhorn JN; Dauber A
J Clin Endocrinol Metab; 2013 Aug; 98(8):E1428-37. PubMed ID: 23771920
[TBL] [Abstract][Full Text] [Related]
16. SHOX gene deletion screening by FISH in children with short stature and Madelung deformity and their characteristics.
Kurnaz E; Savaş-Erdeve Ş; Çetinkaya S; Aycan Z
J Pediatr Endocrinol Metab; 2018 Nov; 31(11):1273-1278. PubMed ID: 30332396
[TBL] [Abstract][Full Text] [Related]
17. Pathogenic/likely pathogenic variants in the SHOX, GHR and IGFALS genes among Indian children with idiopathic short stature.
Kumar A; Jain V; Chowdhury MR; Kumar M; Kaur P; Kabra M
J Pediatr Endocrinol Metab; 2020 Jan; 33(1):79-88. PubMed ID: 31834863
[TBL] [Abstract][Full Text] [Related]
18. Prenatal genetic testing in 19 fetuses with corpus callosum abnormality.
She Q; Tang E; Peng C; Wang L; Wang D; Tan W
J Clin Lab Anal; 2021 Nov; 35(11):e23971. PubMed ID: 34569664
[TBL] [Abstract][Full Text] [Related]
19. DNA Methylation Status of SHOX-Flanking CpG Islands in Healthy Individuals and Short Stature Patients with Pseudoautosomal Copy Number Variations.
Ogushi K; Hattori A; Suzuki E; Shima H; Izawa M; Yagasaki H; Horikawa R; Uetake K; Umezawa A; Ishii T; Muroya K; Namba N; Tanaka T; Hirano Y; Yamamoto H; Soneda S; Matsubara K; Kagami M; Miyado M; Fukami M
Cytogenet Genome Res; 2019; 158(2):56-62. PubMed ID: 31158835
[TBL] [Abstract][Full Text] [Related]
20. SHOX deficiency in short Taiwanese children: A single-center experience.
Tung YC; Lee NC; Hwu WL; Liu SY; Lee CT; Chien YH; Tsai WY
J Formos Med Assoc; 2018 Oct; 117(10):909-914. PubMed ID: 29254682
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]
