| 1 | DEL10PD, DGS2, GATA3, HDR
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| Clinical description of a patient carrying the smallest reported deletion involving 10p14 region.
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| Melis D, Genesio R, Boemio P, Del Giudice E, Cappuccio G, Mormile A, Ronga V, Conti A, Imperati F, Nitsch L, Andria G.
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| Am J Med Genet A 158A(4):832-5. doi: 10.1002/ajmg.a.34133. Epub 2012 Mar 9.
2012
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| 2 | DEL10PD, DEL10PT, DGS2, HDR
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| Molecular and clinical characterization of patients with overlapping 10p deletions.
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| Lindstrand A, Malmgren H, Verri A, Benetti E, Eriksson M, Nordgren A, Anderlid BM, Golovleva I, Schoumans J, Blennow E.
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| Am J Med Genet A 152A(5):1233-43.PMID: 20425828 2010
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| 3 | GATA3, HDR
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| HDR syndrome: a novel "de novo" mutation in GATA3 gene.
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| Ferraris S, Del Monaco AG, Garelli E, Carando A, De Vito B, Pappi P, Lala R, Ponzone A.
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| Am J Med Genet A 149A(4):770-5.
2009
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| 4 | DEL10PD, HDR
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| 10p12.1 deletion: HDR phenotype without DGS2 features.
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| Benetti E, Murer L, Bordugo A, Andreetta B, Artifoni L.
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| Exp Mol Pathol 86(1):74-6. Epub 2008 Oct 31.
2009
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| 5 | GATA3, HDR
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| A missense GATA3 mutation, Thr272Ile, causes the hypoparathyroidism, deafness, and renal dysplasia syndrome.
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| Gaynor KU, Grigorieva IV, Nesbit MA, Cranston T, Gomes T, Gortner L, Thakker RV.
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| J Clin Endocrinol Metab 94(10):3897-904. Epub 2009 Sep 1.PMID: 19723756 2009
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| 6 | GATA3, HDR
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| Functional characterization of GATA3 mutations causing the hypoparathyroidism-deafness-renal (HDR) dysplasia syndrome: insight into mechanisms of DNA binding by the GATA3 transcription factor.
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| Ali A, Christie PT, Grigorieva IV, Harding B, Van Esch H, Ahmed SF, Bitner-Glindzicz M, Blind E, Bloch C, Christin P, Clayton P, Gecz J, Gilbert-Dussardier B, Guillen-Navarro E, Hackett A, Halac I, Hendy GN, Lalloo F, Mache CJ, Mughal Z, Ong AC, Rinat C, Shaw N, Smithson SF, Tolmie J, Weill J, Nesbit MA, Thakker RV.
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| Hum Mol Genet 16(3):265-75. Epub 2007 Jan 8. 2007
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| 7 | HDR, GATA3
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| Novel mutation in the gene encoding the GATA3 transcription factor in a Spanish familial case of hypoparathyroidism, deafness, and renal dysplasia (HDR) syndrome with female genital tract malformations.
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| Hernandez AM, Villamar M, Rosello L, Moreno-Pelayo MA, Moreno F, Del Castillo I.
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| Am J Med Genet A 143(7):757-62. No abstract available. 2007
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| 8 | HDR
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| Chromosome 10p deletion in a patient with hypoparathyroidism, severe mental retardation, autism and basal ganglia calcifications.
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| Verri A, Maraschio P, Devriendt K, Uggetti C, Spadoni E, Haeusler E, Federico A.
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| Ann Genet 47(3):281-7. 2004
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| 9 | GATA3, HDR
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| Characterization of GATA3 mutations in the hypoparathyroidism, deafness, and renal dysplasia (HDR) syndrome.
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| Nesbit MA, Bowl MR, Harding B, Ali A, Ayala A, Crowe C, Dobbie A, Hampson G, Holdaway I, Levine MA, McWilliams R, Rigden S, Sampson J, Williams AJ, Thakker RV.
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| J Biol Chem 279(21):22624-34. Epub 2004 Feb 24. 2004
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| 10 | GATA3, HDR
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| GATA3 abnormalities and the phenotypic spectrum of HDR syndrome.
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| Muroya K, Hasegawa T, Ito Y, Nagai T, Isotani H, Iwata Y, Yamamoto K, Fujimoto S, Seishu S, Fukushima Y, Hasegawa Y, Ogata T.
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| J Med Genet 38(6):374-80. 2001
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| 11 | HDR, GATA4
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| An HDR (hypoparathyroidism, deafness, renal dysplasia) syndrome locus maps distal to the DiGeorge syndrome region on 10p13/14.
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| Lichtner P, Konig R, Hasegawa T, Van Esch H, Meitinger T, Schuffenhauer S.
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| J Med Genet 37(1):33-7 2000
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| 12 | GATA3, HDR
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| GATA3 haplo-insufficiency causes human HDR syndrome.
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| Van Esch H, Groenen P, Nesbit MA, Schuffenhauer S, Lichtner P, Vanderlinden G, Harding B, Beetz R, Bilous RW, Holdaway I, Shaw NJ, Fryns JP, Van de Ven W, Thakker RV, Devriendt K.
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| Nature 406(6794):419-22. 2000
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| 13 | DGS2, HDR
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| Partial DiGeorge syndrome in two patients with a 10p rearrangement.
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| Van Esch H, et al.
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| Clin Genet 55(4):269-76. 1999
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| 14 | HDR, GATA3
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| Recurrent cerebral infarctions and del(10)(p14p15.1) de novo in HDR (hypoparathyroidism, sensorineural deafness, renal dysplasia) syndrome.
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| Fujimoto S, Yokochi K, Morikawa H, Nakano M, Shibata H, Togari H, Wada Y.
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| Am J Med Genet 86(5):427-9. 1999
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| 15 | DGS2, HDR
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| Characterization of 10p deletions suggests two nonoverlapping regions contribute to the DiGeorge syndrome phenotype.
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| Gottlieb S, Driscoll DA, Punnett HH, Sellinger B, Emanuel BS, Budarf ML.
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| Am J Hum Genet 62(2):495-8. 1998
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| 16 | DGS2, HDR
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| Deletion mapping on chromosome 10p and definition of a critical region for the second DiGeorge syndrome locus (DGS2).
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| Schuffenhauer S, et al.
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| Eur J Hum Genet 6 : 213-225. 1998
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| 17 | DGS2, HDR
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| DiGeorge anomaly and chromosome 10p deletions: one or two loci?
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| Dasouki M, Jurecic V, Phillips JA 3rd, Whitlock JA, Baldini A.
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| Am J Med Genet 73(1):72-5. 1997
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| 18 | HDR
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| HDR syndrome (hypoparathyroidism, sensorineural deafness, renal dysplasia) associated with del(10)(p13).
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| Hasegawa T, Hasegawa Y, Aso T, Koto S, Nagai T, Tsuchiya Y, Kim KC, Ohashi H, Wakui K, Fukushima Y.
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| Am J Med Genet 73(4):416-8. 1997
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| 19 | DGS2, HDR
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| DiGeorge syndrome and partial monosomy 10p : Case report and review.
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| Schuffenhauer S, et al.
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| Ann Genet 38 : 162-167. 1995
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