160 related articles for article (PubMed ID: 37750395)
1.
Srivastava P; Tyagi A; Bamba C; Kumari A; Kaur H; Seth S; Kaur A; Panigrahi I; Dayal D; Pramanik S; Mandal K
J Clin Res Pediatr Endocrinol; 2024 Mar; 16(1):41-49. PubMed ID: 37750395
[TBL] [Abstract][Full Text] [Related]
2. Duplications upstream and downstream of SHOX identified as novel causes of Leri-Weill dyschondrosteosis or idiopathic short stature.
Bunyan DJ; Baffico M; Capone L; Vannelli S; Iughetti L; Schmitt S; Taylor EJ; Herridge AA; Shears D; Forabosco A; Coviello DA
Am J Med Genet A; 2016 Apr; 170A(4):949-57. PubMed ID: 26698168
[TBL] [Abstract][Full Text] [Related]
3. 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]
4. Clinical and molecular evaluation of SHOX/PAR1 duplications in Leri-Weill dyschondrosteosis (LWD) and idiopathic short stature (ISS).
Benito-Sanz S; Barroso E; Heine-Suñer D; Hisado-Oliva A; Romanelli V; Rosell J; Aragones A; Caimari M; Argente J; Ross JL; Zinn AR; Gracia R; Lapunzina P; Campos-Barros A; Heath KE
J Clin Endocrinol Metab; 2011 Feb; 96(2):E404-12. PubMed ID: 21147883
[TBL] [Abstract][Full Text] [Related]
5. 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]
6. Identification of the first PAR1 deletion encompassing upstream SHOX enhancers in a family with idiopathic short stature.
Benito-Sanz S; Aza-Carmona M; Rodríguez-Estevez A; Rica-Etxebarria I; Gracia R; Campos-Barros A; Heath KE
Eur J Hum Genet; 2012 Jan; 20(1):125-7. PubMed ID: 22071895
[TBL] [Abstract][Full Text] [Related]
7. 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]
8. SHOX gene defects and selected dysmorphic signs in patients of idiopathic short stature and Léri-Weill dyschondrosteosis.
Hirschfeldova K; Solc R; Baxova A; Zapletalova J; Kebrdlova V; Gaillyova R; Prasilova S; Soukalova J; Mihalova R; Lnenicka P; Florianova M; Stekrova J
Gene; 2012 Jan; 491(2):123-7. PubMed ID: 22020182
[TBL] [Abstract][Full Text] [Related]
9. [The prevalence of SHOX gene deletion in children with idiopathic short stature. A multicentric study].
Dávid A; Butz H; Halász Z; Török D; Nyirő G; Muzsnai Á; Csákváry V; Luczay A; Sallai Á; Hosszú É; Felszeghy E; Tar A; Szántó Z; Fekete GL; Kun I; Patócs A; Bertalan R
Orv Hetil; 2017 Aug; 158(34):1351-1356. PubMed ID: 28823207
[TBL] [Abstract][Full Text] [Related]
10. Identification of the first recurrent PAR1 deletion in Léri-Weill dyschondrosteosis and idiopathic short stature reveals the presence of a novel SHOX enhancer.
Benito-Sanz S; Royo JL; Barroso E; Paumard-Hernández B; Barreda-Bonis AC; Liu P; Gracía R; Lupski JR; Campos-Barros Á; Gómez-Skarmeta JL; Heath KE
J Med Genet; 2012 Jul; 49(7):442-50. PubMed ID: 22791839
[TBL] [Abstract][Full Text] [Related]
11. SHOX mutations in idiopathic short stature and Leri-Weill dyschondrosteosis: frequency and phenotypic variability.
Jorge AA; Souza SC; Nishi MY; Billerbeck AE; Libório DC; Kim CA; Arnhold IJ; Mendonca BB
Clin Endocrinol (Oxf); 2007 Jan; 66(1):130-5. PubMed ID: 17201812
[TBL] [Abstract][Full Text] [Related]
12. 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]
13. 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]
14. Genotypes and phenotypes of children with SHOX deficiency in France.
Rosilio M; Huber-Lequesne C; Sapin H; Carel JC; Blum WF; Cormier-Daire V
J Clin Endocrinol Metab; 2012 Jul; 97(7):E1257-65. PubMed ID: 22518848
[TBL] [Abstract][Full Text] [Related]
15. [From gene to disease; from SHOX to Lèri-Weill dyschondrosteosis, Turner syndrome and idiopathic short stature].
Kant SG; Drop SL
Ned Tijdschr Geneeskd; 2001 Jul; 145(30):1456-9. PubMed ID: 11503314
[TBL] [Abstract][Full Text] [Related]
16. Systematic molecular analyses of SHOX in Japanese patients with idiopathic short stature and Leri-Weill dyschondrosteosis.
Shima H; Tanaka T; Kamimaki T; Dateki S; Muroya K; Horikawa R; Kanno J; Adachi M; Naiki Y; Tanaka H; Mabe H; Yagasaki H; Kure S; Matsubara Y; Tajima T; Kashimada K; Ishii T; Asakura Y; Fujiwara I; Soneda S; Nagasaki K; Hamajima T; Kanzaki S; Jinno T; Ogata T; Fukami M;
J Hum Genet; 2016 Jul; 61(7):585-91. PubMed ID: 26984564
[TBL] [Abstract][Full Text] [Related]
17. Identification and characterization of different SHOX gene deletions in patients with Leri-Weill dyschondrosteosys by MLPA assay.
Gatta V; Antonucci I; Morizio E; Palka C; Fischetto R; Mokini V; Tumini S; Calabrese G; Stuppia L
J Hum Genet; 2007; 52(1):21-27. PubMed ID: 17091221
[TBL] [Abstract][Full Text] [Related]
18. Detection of Del/Dup Inside
Stritar J; Stavber L; Ficko M; Kotnik P; Battelino T; Trebušak Podkrajšek K; Hovnik T
Genes (Basel); 2021 Sep; 12(10):. PubMed ID: 34680940
[TBL] [Abstract][Full Text] [Related]
19. 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]
20. Copy number variations residing outside the SHOX enhancer region are involved in Short Stature and Léri-Weill dyschondrosteosis.
Fanelli A; Vannelli S; Babu D; Mellone S; Cucci A; Monzani A; Al Essa W; Secco A; Follenzi A; Bellone S; Prodam F; Giordano M
Mol Genet Genomic Med; 2022 Jan; 10(1):e1793. PubMed ID: 34811950
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]