PubMed (OMIM) for id: 93210

Year	Number of Results
2002	1
2003	1
2012	1
2014	1
2018	3
2019	1
2023	1
2024	0

1

Defining the phenotype of PGAP3-congenital disorder of glycosylation; a review of 65 cases.

Altassan R, Allers MM, De Graef D, Shah R, de Vries M, Larson A, Glamuzina E, Morava E. Altassan R, et al. Mol Genet Metab. 2023 Nov;140(3):107688. doi: 10.1016/j.ymgme.2023.107688. Epub 2023 Aug 23. Mol Genet Metab. 2023. PMID: 37647829 Review.

2

Delineating the phenotypic spectrum of hyperphosphatasia with mental retardation syndrome 4 in 14 patients of Middle-Eastern origin.

Balobaid A, Ben-Omran T, Ramzan K, Altassan R, Almureikhi M, Musa S, Al-Hashmi N, Al-Owain M, Al-Zaidan H, Al-Hassnan Z, Imtiaz F, Al-Sayed M. Balobaid A, et al. Am J Med Genet A. 2018 Dec;176(12):2850-2857. doi: 10.1002/ajmg.a.40627. Epub 2018 Oct 22. Am J Med Genet A. 2018. PMID: 30345601

3

Hyperphosphatasia with mental retardation syndrome type 4 In two siblings-expanding the phenotypic and mutational spectrum.

Akgün Doğan Ö, Demir GÜ, Kosukcu C, Taskiran EZ, Simsek-Kiper PÖ, Utine GE, Alikaşifoğlu M, Boduroğlu K. Akgün Doğan Ö, et al. Eur J Med Genet. 2019 Jun;62(6):103535. doi: 10.1016/j.ejmg.2018.09.002. Epub 2018 Sep 11. Eur J Med Genet. 2019. PMID: 30217754

4

Expanding the phenome and variome of skeletal dysplasia.

Maddirevula S, Alsahli S, Alhabeeb L, Patel N, Alzahrani F, Shamseldin HE, Anazi S, Ewida N, Alsaif HS, Mohamed JY, Alazami AM, Ibrahim N, Abdulwahab F, Hashem M, Abouelhoda M, Monies D, Al Tassan N, Alshammari M, Alsagheir A, Seidahmed MZ, Sogati S, Aglan MS, Hamad MH, Salih MA, Hamed AA, Alhashmi N, Nabil A, Alfadli F, Abdel-Salam GMH, Alkuraya H, Peitee WO, Keng WT, Qasem A, Mushiba AM, Zaki MS, Fassad MR, Alfadhel M, Alexander S, Sabr Y, Temtamy S, Ekbote AV, Ismail S, Hosny GA, Otaify GA, Amr K, Al Tala S, Khan AO, Rizk T, Alaqeel A, Alsiddiky A, Singh A, Kapoor S, Alhashem A, Faqeih E, Shaheen R, Alkuraya FS. Maddirevula S, et al. Genet Med. 2018 Dec;20(12):1609-1616. doi: 10.1038/gim.2018.50. Epub 2018 Apr 5. Genet Med. 2018. PMID: 29620724 Free article.

5

Mutations in PGAP3 impair GPI-anchor maturation, causing a subtype of hyperphosphatasia with mental retardation.

Howard MF, Murakami Y, Pagnamenta AT, Daumer-Haas C, Fischer B, Hecht J, Keays DA, Knight SJ, Kölsch U, Krüger U, Leiz S, Maeda Y, Mitchell D, Mundlos S, Phillips JA 3rd, Robinson PN, Kini U, Taylor JC, Horn D, Kinoshita T, Krawitz PM. Howard MF, et al. Am J Hum Genet. 2014 Feb 6;94(2):278-87. doi: 10.1016/j.ajhg.2013.12.012. Epub 2014 Jan 16. Am J Hum Genet. 2014. PMID: 24439110 Free PMC article.

6

Phenotypic variability in hyperphosphatasia with seizures and neurologic deficit (Mabry syndrome).

Thompson MD, Roscioli T, Marcelis C, Nezarati MM, Stolte-Dijkstra I, Sharom FJ, Lu P, Phillips JA, Sweeney E, Robinson PN, Krawitz P, Yntema HG, Andrade DM, Brunner HG, Cole DE. Thompson MD, et al. Am J Med Genet A. 2012 Mar;158A(3):553-8. doi: 10.1002/ajmg.a.35202. Epub 2012 Feb 7. Am J Med Genet A. 2012. PMID: 22315194

7

MGC9753 gene, located within PPP1R1B-STARD3-ERBB2-GRB7 amplicon on human chromosome 17q12, encodes the seven-transmembrane receptor with extracellular six-cystein domain.

Katoh M, Katoh M. Katoh M, et al. Int J Oncol. 2003 Jun;22(6):1369-74. Int J Oncol. 2003. PMID: 12739007

8

Identification of the CAB2/hCOS16 gene required for the repair of DNA double-strand breaks on a core amplified region of the 17q12 locus in breast and gastric cancers.

Nezu M, Nishigaki M, Ishizuka T, Kuwahara Y, Tanabe C, Aoyagi K, Sakamoto H, Saito Y, Yoshida T, Sasaki H, Terada M. Nezu M, et al. Jpn J Cancer Res. 2002 Nov;93(11):1183-6. doi: 10.1111/j.1349-7006.2002.tb01221.x. Jpn J Cancer Res. 2002. PMID: 12460457 Free PMC article.

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