Mueller OT - Search Results

1

Uniparental isodisomy of chromosome 14 in two cases: an abnormal child and a normal adult.

Papenhausen PR, Mueller OT, Johnson VP, Sutcliffe M, Diamond TM, Kousseff BG. Papenhausen PR, et al. Among authors: mueller ot. Am J Med Genet. 1995 Nov 20;59(3):271-5. doi: 10.1002/ajmg.1320590302. Am J Med Genet. 1995. PMID: 8599348 Review.

2

Fragile X syndrome: discordant levels of CGG repeat mosaicism in two brothers.

Mueller OT, Hartsfield JK Jr, Amar MJ, Gallardo LA, Kousseff BG. Mueller OT, et al. Am J Med Genet. 1995 Aug 14;60(4):302-6. doi: 10.1002/ajmg.1320600408. Am J Med Genet. 1995. PMID: 7485265

3

Lowe oculocerebrorenal syndrome in a female with a balanced X;20 translocation: mapping of the X chromosome breakpoint.

Mueller OT, Hartsfield JK Jr, Gallardo LA, Essig YP, Miller KL, Papenhausen PR, Tedesco TA. Mueller OT, et al. Am J Hum Genet. 1991 Oct;49(4):804-10. Am J Hum Genet. 1991. PMID: 1897526 Free PMC article.

4

The human arylsulfatase-C isoenzymes: two distinct genes that escape from X inactivation.

Chang PL, Mueller OT, Lafrenie RM, Varey PA, Rosa NE, Davidson RG, Henry WM, Shows TB. Chang PL, et al. Among authors: mueller ot. Am J Hum Genet. 1990 Apr;46(4):729-37. Am J Hum Genet. 1990. PMID: 1690506 Free PMC article.

5

Cell line segregation in a 45,X/46,XY mosaic child with asymmetric leg growth.

Papenhausen PR, Mueller OT, Bercu B, Salazar J, Tedesco TA. Papenhausen PR, et al. Among authors: mueller ot. Clin Genet. 1991 Sep;40(3):237-41. doi: 10.1111/j.1399-0004.1991.tb03084.x. Clin Genet. 1991. PMID: 1773540

6

Uniparental isodisomy of chromosome 14 in two cases: an abnormal child and a normal adult.

Papenhausen PR, Mueller OT, Sutcliffe M, Diamond TM, Kousseff BG, Johnson VP. Papenhausen PR, et al. Among authors: mueller ot. Am J Med Genet. 1996 Dec 2;66(1):90. doi: 10.1002/(SICI)1096-8628(19961202)66:1<90::AID-AJMG23>3.0.CO;2-K. Am J Med Genet. 1996. PMID: 8957521 No abstract available.

7

Three cell line mosaicism involving structural and numerical abnormalities of chromosome 18 in a 3.5-year-old girl: 47,XX,+18/47,XX,+del(18)(q22)/46,XX.

Sutcliffe MJ, Mueller OT, Kousseff BG, Dumont DP, McFarland JA, Mawani F, Conforto D, Ranells JD. Sutcliffe MJ, et al. Among authors: mueller ot. Am J Med Genet. 2001 Aug 1;102(2):192-9. doi: 10.1002/1096-8628(20010801)102:2<192::aid-ajmg1445>3.0.co;2-d. Am J Med Genet. 2001. PMID: 11477615

8

Peripheral neuropathy in the first 2 years of life: diagnostic evaluation including molecular genetics.

Lacson AG, Gieron-Korthals M, Mueller OT. Lacson AG, et al. Among authors: mueller ot. Adv Pediatr. 2001;48:213-43. Adv Pediatr. 2001. PMID: 11480758 Review.

9

Homozygosity for a dominant negative thyroid hormone receptor gene responsible for generalized resistance to thyroid hormone.

Ono S, Schwartz ID, Mueller OT, Root AW, Usala SJ, Bercu BB. Ono S, et al. Among authors: mueller ot. J Clin Endocrinol Metab. 1991 Nov;73(5):990-4. doi: 10.1210/jcem-73-5-990. J Clin Endocrinol Metab. 1991. PMID: 1682340

10

Adult GM1 gangliosidosis: clinical and biochemical studies on two patients and comparison to other patients called variant or adult GM1 gangliosidosis.

Wenger DA, Sattler M, Mueller OT, Myers GG, Schneiman RS, Nixon GW. Wenger DA, et al. Among authors: mueller ot. Clin Genet. 1980 May;17(5):323-34. doi: 10.1111/j.1399-0004.1980.tb00158.x. Clin Genet. 1980. PMID: 6777095

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