Dumić M - Search Results

1

Pathogenic Variants in GPC4 Cause Keipert Syndrome.

Amor DJ, Stephenson SEM, Mustapha M, Mensah MA, Ockeloen CW, Lee WS, Tankard RM, Phelan DG, Shinawi M, de Brouwer APM, Pfundt R, Dowling C, Toler TL, Sutton VR, Agolini E, Rinelli M, Capolino R, Martinelli D, Zampino G, Dumić M, Reardon W, Shaw-Smith C, Leventer RJ, Delatycki MB, Kleefstra T, Mundlos S, Mortier G, Bahlo M, Allen NJ, Lockhart PJ. Amor DJ, et al. Among authors: dumic m. Am J Hum Genet. 2019 May 2;104(5):914-924. doi: 10.1016/j.ajhg.2019.02.026. Epub 2019 Apr 11. Am J Hum Genet. 2019. PMID: 30982611 Free PMC article.

2

Daughter and her mildly affected father with Keipert syndrome.

Dumic M, Kokic DD, Matic T, Potocki K. Dumic M, et al. Am J Med Genet A. 2006 Nov 15;140(22):2488-92. doi: 10.1002/ajmg.a.31489. Am J Med Genet A. 2006. PMID: 17036315

3

Prenatal diagnosis of congenital adrenal hyperplasia (21-hydroxylase deficiency) in Croatia.

Dumic M, Brkljacic L, Plavsic V, Zunec R, Ille J, Wilson RC, Kuvacic I, Kastelan A, New MI. Dumic M, et al. Am J Med Genet. 1997 Oct 31;72(3):302-6. doi: 10.1002/(sici)1096-8628(19971031)72:3<302::aid-ajmg10>3.0.co;2-x. Am J Med Genet. 1997. PMID: 9332659

4

Twins and their mildly affected mother with Weaver syndrome.

Dumić M, Vuković J, Cvitkovic M, Medica I. Dumić M, et al. Clin Genet. 1993 Dec;44(6):338-40. doi: 10.1111/j.1399-0004.1993.tb03912.x. Clin Genet. 1993. PMID: 8131308

5

Nevo syndrome.

Dumić M, Vukelić D, Plavsić V, Cviko A, Sokolić L, Filipović-Grcić B. Dumić M, et al. Am J Med Genet. 1998 Feb 26;76(1):67-70. doi: 10.1002/(sici)1096-8628(19980226)76:1<67::aid-ajmg12>3.3.co;2-u. Am J Med Genet. 1998. PMID: 9508068

6

Choanal stenosis, hypothelia, deafness, recurrent dacryocystitis, neck fistulas, short stature, and microcephaly: report of a case.

Dumić M, Cvitanović M, Sarić B, Spehar A, Batinica S. Dumić M, et al. Am J Med Genet. 2002 Dec 1;113(3):295-7. doi: 10.1002/ajmg.10783. Am J Med Genet. 2002. PMID: 12439900

7

Sparse hair and multiple endocrine disorders in two women heterozygous for adrenoleukodystrophy.

Dumic M, Gubarev N, Sikic N, Roscher A, Plavsic V, Filipovic-Grcic B. Dumic M, et al. Am J Med Genet. 1992 Jul 15;43(5):829-32. doi: 10.1002/ajmg.1320430515. Am J Med Genet. 1992. PMID: 1642271

8

Syndrome of short stature, mental deficiency, microcephaly, ectodermal dysplasia, and multiple skeletal anomalies.

Dumić M, Cvitanovic M, Ille J, Potocki K. Dumić M, et al. Am J Med Genet. 2000 Jul 3;93(1):47-51. doi: 10.1002/1096-8628(20000703)93:1<47::aid-ajmg8>3.0.co;2-a. Am J Med Genet. 2000. PMID: 10861681

9

HLA-A, B and DR antigens in patients with gonadal dysgenesis.

Filipović B, Dumić M, Tomasković M, Crnojević R, Ille J, Vuković J. Filipović B, et al. Among authors: dumic m. Clin Genet. 1994 Oct;46(4):309-12. doi: 10.1111/j.1399-0004.1994.tb04166.x. Clin Genet. 1994. PMID: 7834897

10

Alteration of DNA binding, dimerization, and nuclear translocation of SHOX homeodomain mutations identified in idiopathic short stature and Leri-Weill dyschondrosteosis.

Schneider KU, Marchini A, Sabherwal N, Röth R, Niesler B, Marttila T, Blaschke RJ, Lawson M, Dumic M, Rappold G. Schneider KU, et al. Among authors: dumic m. Hum Mutat. 2005 Jul;26(1):44-52. doi: 10.1002/humu.20187. Hum Mutat. 2005. PMID: 15931687

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