125 related articles for article (PubMed ID: 37806643)
1. Clinical-genetic analysis of selected genes involved in the development of the human skeleton in 128 Czech patients with suspected congenital skeletal abnormalities.
Spurná Z; Čapková P; Punová L; DuchoslavovÁ J; Aleksijevic D; Venháčová P; Srovnal J; Štellmachová J; Curtisová V; Bitnerová V; Petřková J; Kolaříková K; Janíková M; Kratochvílová R; Vrtěl P; Vodička R; Vrtěl R; Zapletalová J
Gene; 2024 Jan; 892():147881. PubMed ID: 37806643
[TBL] [Abstract][Full Text] [Related]
2. Next generation sequencing-based mutation screening of 86 patients with idiopathic short stature.
Hattori A; Katoh-Fukui Y; Nakamura A; Matsubara K; Kamimaki T; Tanaka H; Dateki S; Adachi M; Muroya K; Yoshida S; Ida S; Mitani M; Nagasaki K; Ogata T; Suzuki E; Hata K; Nakabayashi K; Matsubara Y; Narumi S; Tanaka T; Fukami M
Endocr J; 2017 Oct; 64(10):947-954. PubMed ID: 28768959
[TBL] [Abstract][Full Text] [Related]
3. 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]
4. Detection of
Gürsoy S; Hazan F; Aykut A; Nalbantoğlu Ö; Korkmaz HA; Demir K; Özkan B; Çoğulu Ö
J Clin Res Pediatr Endocrinol; 2020 Nov; 12(4):358-365. PubMed ID: 32295321
[TBL] [Abstract][Full Text] [Related]
5. Clinical Characteristics of Short-Stature Patients With Collagen Gene Mutation and the Therapeutic Response to rhGH.
Chen M; Miao H; Liang H; Ke X; Yang H; Gong F; Wang L; Duan L; Chen S; Pan H; Zhu H
Front Endocrinol (Lausanne); 2022; 13():820001. PubMed ID: 35250876
[TBL] [Abstract][Full Text] [Related]
6. High Prevalence of Growth Plate Gene Variants in Children With Familial Short Stature Treated With GH.
Plachy L; Strakova V; Elblova L; Obermannova B; Kolouskova S; Snajderova M; Zemkova D; Dusatkova P; Sumnik Z; Lebl J; Pruhova S
J Clin Endocrinol Metab; 2019 Oct; 104(10):4273-4281. PubMed ID: 30753492
[TBL] [Abstract][Full Text] [Related]
7. Heterozygous NPR2 Mutations Cause Disproportionate Short Stature, Similar to Léri-Weill Dyschondrosteosis.
Hisado-Oliva A; Garre-Vázquez AI; Santaolalla-Caballero F; Belinchón A; Barreda-Bonis AC; Vasques GA; Ramirez J; Luzuriaga C; Carlone G; González-Casado I; Benito-Sanz S; Jorge AA; Campos-Barros A; Heath KE
J Clin Endocrinol Metab; 2015 Aug; 100(8):E1133-42. PubMed ID: 26075495
[TBL] [Abstract][Full Text] [Related]
8. A High Proportion of Novel ACAN Mutations and Their Prevalence in a Large Cohort of Chinese Short Stature Children.
Lin L; Li M; Luo J; Li P; Zhou S; Yang Y; Chen K; Weng Y; Ge X; Mireguli M; Wei H; Yang H; Li G; Sun Y; Cui L; Zhang S; Chen J; Zeng G; Xu L; Luo X; Shen Y
J Clin Endocrinol Metab; 2021 Jun; 106(7):e2711-e2719. PubMed ID: 33606014
[TBL] [Abstract][Full Text] [Related]
9. Clinical and Genetic Characteristics of 23 Korean Patients with Haploinsufficiency of the Short-stature Homeobox-containing Gene.
Lee JS; Kim HY; Lee YA; Lee SY; Cho TJ; Ko JM
Exp Clin Endocrinol Diabetes; 2021 Aug; 129(8):611-620. PubMed ID: 32932528
[TBL] [Abstract][Full Text] [Related]
10. IGF1, IGF1R and SHOX mutation analysis in short children born small for gestational age and short children with normal birth size (idiopathic short stature).
Caliebe J; Broekman S; Boogaard M; Bosch CA; Ruivenkamp CA; Oostdijk W; Kant SG; Binder G; Ranke MB; Wit JM; Losekoot M
Horm Res Paediatr; 2012; 77(4):250-60. PubMed ID: 22572840
[TBL] [Abstract][Full Text] [Related]
11. 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]
12. 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]
13. Identification of a second genetic alteration in patients with SHOX deficiency individuals: a potential explanation for phenotype variability.
Dantas NCB; Funari MFA; Lerário AM; Andrade NLM; Rezende RC; Cellin LP; Alves C; Crisostomo LG; Arnhold IJP; Mendonca B; Scalco RC; Jorge AAL
Eur J Endocrinol; 2023 Sep; 189(3):387-395. PubMed ID: 37695807
[TBL] [Abstract][Full Text] [Related]
14. Association analysis of ten candidate genes in a large multinational cohort of small for gestational age children and children with idiopathic short stature (NESTEGG study).
de Graaff LC; Clark AJ; Tauber M; Ranke MB; Johnston LB; Caliebe J; Molinas C; Amin N; van Duijn C; Wollmann H; Wallaschofski H; Savage MO; Hokken-Koelega AC
Horm Res Paediatr; 2013; 80(6):466-76. PubMed ID: 24280783
[TBL] [Abstract][Full Text] [Related]
15. Novel Clinical Criteria Allow Detection of Short Stature Homeobox-Containing Gene Haploinsufficiency Caused by Either Gene or Enhancer Region Defects.
Joustra SD; Kamp GA; Stalman SE; Donze SH; Losekoot M; Kant SG; de Bruin C; Oostdijk W; Wit JM
Horm Res Paediatr; 2019; 92(6):372-381. PubMed ID: 32344414
[TBL] [Abstract][Full Text] [Related]
16. Co-occurrence of genomic imbalances on Xp22.1 in the SHOX region and 15q25.2 in a girl with short stature, precocious puberty, urogenital malformations and bone anomalies.
Monzani A; Babu D; Mellone S; Genoni G; Fanelli A; Prodam F; Bellone S; Giordano M
BMC Med Genomics; 2019 Jan; 12(1):5. PubMed ID: 30626445
[TBL] [Abstract][Full Text] [Related]
17. MECHANISMS IN ENDOCRINOLOGY: Novel genetic causes of short stature.
Wit JM; Oostdijk W; Losekoot M; van Duyvenvoorde HA; Ruivenkamp CA; Kant SG
Eur J Endocrinol; 2016 Apr; 174(4):R145-73. PubMed ID: 26578640
[TBL] [Abstract][Full Text] [Related]
18. Deletions of the homeobox gene SHOX (short stature homeobox) are an important cause of growth failure in children with short stature.
Rappold GA; Fukami M; Niesler B; Schiller S; Zumkeller W; Bettendorf M; Heinrich U; Vlachopapadoupoulou E; Reinehr T; Onigata K; Ogata T
J Clin Endocrinol Metab; 2002 Mar; 87(3):1402-6. PubMed ID: 11889216
[TBL] [Abstract][Full Text] [Related]
19. SHOX far-downstream copy-number variations involving cis-regulatory nucleotide variants in two sisters with Leri-Weill dyschondrosteosis.
Ogushi K; Muroya K; Shima H; Jinno T; Miyado M; Fukami M
Am J Med Genet A; 2019 Sep; 179(9):1778-1782. PubMed ID: 31228230
[TBL] [Abstract][Full Text] [Related]
20. HDAC8 Loss of Function and SHOX Haploinsufficiency: Two Independent Genetic Defects Responsible for a Complex Phenotype.
Severi G; Bonora E; Perri A; Scarano E; Mazzanti L; Isidori F; Zuntini R; Menabò S; Graziano C
Cytogenet Genome Res; 2019; 157(3):135-140. PubMed ID: 30933954
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]
