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Items: 1 to 20 of 93

1.

GAPO syndrome in seven new patients: Identification of five novel ANTXR1 mutations including the first large intragenic deletion.

Abdel-Hamid MS, Ismail S, Zaki MS, Abdel-Salam GMH, Otaify GA, Issa MY, Abdel-Kader M, Girgis M, Aboul-Ezz E, Mazen I, Aglan MS, Temtamy SA.

Am J Med Genet A. 2019 Feb;179(2):237-242. doi: 10.1002/ajmg.a.61021. Epub 2018 Dec 21.

PMID:
30575274
2.

Whole exome sequencing identifies three novel mutations in ANTXR1 in families with GAPO syndrome.

Bayram Y, Pehlivan D, Karaca E, Gambin T, Jhangiani SN, Erdin S, Gonzaga-Jauregui C, Wiszniewski W, Muzny D; Baylor-Hopkins Center for Mendelian Genomics, Elcioglu NH, Yildirim MS, Bozkurt B, Zamani AG, Boerwinkle E, Gibbs RA, Lupski JR.

Am J Med Genet A. 2014 Sep;164A(9):2328-34. doi: 10.1002/ajmg.a.36678. Epub 2014 Jul 14.

3.

A novel mutation at ANTXR1 in an Indian patient with growth retardation-alopecia-pseudoanodontia-optic atrophy syndrome.

Chattopadhyay E, Ghose S, Ray A, Anjum N, Mazumdar A, Roy B.

Oral Surg Oral Med Oral Pathol Oral Radiol. 2017 Nov;124(5):e261-e265. doi: 10.1016/j.oooo.2017.07.009. Epub 2017 Aug 4.

PMID:
28870703
4.

New ANTXR1 Gene Mutation for GAPO Syndrome: A Case Report.

Salas-Alanís JC, Scott CA, Fajardo-Ramírez OR, Duran C, Moreno-Treviño MG, Kelsell DP.

Mol Syndromol. 2016 Jul;7(3):160-3. doi: 10.1159/000446619. Epub 2016 Jun 2.

5.

Mutations in ANTXR1 cause GAPO syndrome.

Stránecký V, Hoischen A, Hartmannová H, Zaki MS, Chaudhary A, Zudaire E, Nosková L, Barešová V, Přistoupilová A, Hodaňová K, Sovová J, Hůlková H, Piherová L, Hehir-Kwa JY, de Silva D, Senanayake MP, Farrag S, Zeman J, Martásek P, Baxová A, Afifi HH, St Croix B, Brunner HG, Temtamy S, Kmoch S.

Am J Hum Genet. 2013 May 2;92(5):792-9. doi: 10.1016/j.ajhg.2013.03.023. Epub 2013 Apr 18.

6.

GAPO syndrome: a new syndromic cause of premature ovarian insufficiency.

Benetti-Pinto CL, Ferreira V, Andrade L, Yela DA, De Mello MP.

Climacteric. 2016 Dec;19(6):594-598. Epub 2016 Jul 16.

PMID:
27426988
7.

A biallelic ANTXR1 variant expands the anthrax toxin receptor associated phenotype to tooth agenesis.

Dinckan N, Du R, Akdemir ZC, Bayram Y, Jhangiani SN, Doddapaneni H, Hu J, Muzny DM, Guven Y, Aktoren O, Kayserili H, Boerwinkle E, Gibbs RA, Posey JE, Lupski JR, Uyguner ZO, Letra A.

Am J Med Genet A. 2018 Apr;176(4):1015-1022. doi: 10.1002/ajmg.a.38625. Epub 2018 Feb 13.

8.

Telogen hair loss and androgenetic-like alopecia in GAPO syndrome.

Ahmed B, Gritli S.

Australas J Dermatol. 2019 May;60(2):e142-e144. doi: 10.1111/ajd.12937. Epub 2018 Sep 25.

PMID:
30255493
9.

Ophthalmic findings in GAPO syndrome.

Ilker SS, Oztürk F, Kurt E, Temel M, Gül D, Sayli BS.

Jpn J Ophthalmol. 1999 Jan-Feb;43(1):48-52.

PMID:
10197743
10.

Fell-Muir Lecture: Regulatory mechanisms of skeletal and connective tissue development and homeostasis - lessons from studies of human disorders.

Olsen BR, Berendsen AD, Besschetnova TY, Duan X, Hu K.

Int J Exp Pathol. 2016 Aug;97(4):296-302. doi: 10.1111/iep.12198. Epub 2016 Sep 1. Review.

11.

GAPO syndrome with craniosynostosis and intracranial hypertension.

Golpayegani M, Salari F, Habibi Z, Naderian N, Nejat F.

Childs Nerv Syst. 2019 Sep;35(9):1621-1624. doi: 10.1007/s00381-019-04250-9. Epub 2019 Jun 23.

PMID:
31230109
13.

[Ocular manifestation in GAPO syndrome. Report of the first tunisian case].

Touzri RA, Goucha S, Kriaa L, Beltaif O, Fazaa B, El Andolsi H, Kamoun MR, Ouertani A.

J Fr Ophtalmol. 2003 Dec;26(10):1067-70. Review. French.

14.

[GAPO syndrome].

Goucha S, Fazaa B, Ezzine N, Jaber K, Elandaloussi H, Abid R, Kamoun MR.

Ann Dermatol Venereol. 2000 May;127(5):501-4. French.

PMID:
10863181
15.

[Value of imaging in GAPO syndrome].

Goucha S, Mnif N, Bouhala T, Tenzakhti F, El Andaloussi H, Fazaa B, Hamza R, Kamoun MR.

J Radiol. 2002 Feb;83(2 Pt 1):153-6. French.

PMID:
11965163
16.

Ophthalmic aspects of GAPO syndrome: case report and review.

Rim PH, Marques-de-Faria AP.

Ophthalmic Genet. 2005 Sep;26(3):143-7.

PMID:
16272061
17.

GAPO syndrome (McKusick 23074)--a connective tissue disorder: report on two affected sibs and on the pathologic findings in the older.

Wajntal A, Koiffmann CP, Mendonça BB, Epps-Quaglia D, Sotto MN, Rati PB, Opitz JM.

Am J Med Genet. 1990 Oct;37(2):213-23.

PMID:
2248288
18.

Growth retardation, alopecia, pseudoanodontia, and optic atrophy (GAPO syndrome) with congenital glaucoma.

Mullaney PB, Jacquemin C, al-Rashed W, Smith W.

Arch Ophthalmol. 1997 Jul;115(7):940-1. No abstract available.

PMID:
9230846
19.

GAPO syndrome: a new case.

Sandgren G.

Am J Med Genet. 1995 Jul 31;58(1):87-90. Review.

PMID:
7573163
20.

Cell autonomous ANTXR1-mediated regulation of extracellular matrix components in primary fibroblasts.

Hu K, Olsen BR, Besschetnova TY.

Matrix Biol. 2017 Oct;62:105-114. doi: 10.1016/j.matbio.2016.12.002. Epub 2016 Dec 20.

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