McPherson EW - Search Results

1

Pallister-Killian and Fryns syndromes: nosology.

McPherson EW, Ketterer DM, Salsburey DJ. McPherson EW, et al. Am J Med Genet. 1993 Aug 15;47(2):241-5. doi: 10.1002/ajmg.1320470219. Am J Med Genet. 1993. PMID: 8213912

2

Cleft lip and palate, characteristic facial appearance, malrotation of the intestine, and lethal congenital heart disease in two sibs: a new autosomal recessive condition?

McPherson E, Clemens M. McPherson E, et al. Am J Med Genet. 1996 Mar 1;62(1):58-60. doi: 10.1002/(SICI)1096-8628(19960301)62:1<58::AID-AJMG12>3.0.CO;2-U. Am J Med Genet. 1996. PMID: 8779326

3

Apparently balanced t(1;7)(q21.3;q34) in an infant with Coffin-Siris syndrome.

McPherson EW, Laneri G, Clemens MM, Kochmar SJ, Surti U. McPherson EW, et al. Am J Med Genet. 1997 Sep 5;71(4):430-3. doi: 10.1002/(sici)1096-8628(19970905)71:4<430::aid-ajmg11>3.0.co;2-h. Am J Med Genet. 1997. PMID: 9286450

4

Pitt-Rogers-Danks syndrome: the result of a 4p microdeletion.

Clemens M, Martsolf JT, Rogers JG, Mowery-Rushton P, Surti U, McPherson E. Clemens M, et al. Am J Med Genet. 1996 Dec 2;66(1):95-100. doi: 10.1002/(SICI)1096-8628(19961202)66:1<95::AID-AJMG26>3.0.CO;2-K. Am J Med Genet. 1996. PMID: 8957524

5

The use of interphase FISH for prenatal diagnosis of Pallister-Killian syndrome.

Mowery-Rushton PA, Stadler MP, Kochmar SJ, McPherson E, Surti U, Hogge WA. Mowery-Rushton PA, et al. Prenat Diagn. 1997 Mar;17(3):255-65. doi: 10.1002/(sici)1097-0223(199703)17:3<255::aid-pd49>3.0.co;2-t. Prenat Diagn. 1997. PMID: 9110370

6

Three cases of tetrasomy 9p.

Dhandha S, Hogge WA, Surti U, McPherson E. Dhandha S, et al. Am J Med Genet. 2002 Dec 15;113(4):375-80. doi: 10.1002/ajmg.b.10826. Am J Med Genet. 2002. PMID: 12457411 Review.

7

Tetrasomy 15q25.3 --> qter resulting from an analphoid supernumerary marker chromosome in a patient with multiple anomalies and bilateral Wilms tumors.

Hu J, McPherson E, Surti U, Hasegawa SL, Gunawardena S, Gollin SM. Hu J, et al. Am J Med Genet. 2002 Nov 15;113(1):82-8. doi: 10.1002/ajmg.10708. Am J Med Genet. 2002. PMID: 12400070 Review.

8

Identification of an unbalanced cryptic translocation t(9;17)(q34.3;p13.3) in a child with dysmorphic features.

Estop AM, Mowery-Rushton PA, Cieply KM, Kochmar SJ, Sherer CR, Clemens M, Surti U, McPherson E. Estop AM, et al. J Med Genet. 1995 Oct;32(10):819-22. doi: 10.1136/jmg.32.10.819. J Med Genet. 1995. PMID: 8558564 Free PMC article.

9

Duplication 20p identified via fluorescent in situ hybridization.

LeChien KA, McPherson E, Estop AM. LeChien KA, et al. Am J Med Genet. 1994 Apr 1;50(2):187-9. doi: 10.1002/ajmg.1320500210. Am J Med Genet. 1994. PMID: 7516625

10

X-linked alpha-thalassemia/mental retardation (ATR-X) syndrome: a new kindred with severe genital anomalies and mild hematologic expression.

McPherson EW, Clemens MM, Gibbons RJ, Higgs DR. McPherson EW, et al. Am J Med Genet. 1995 Jan 30;55(3):302-6. doi: 10.1002/ajmg.1320550311. Am J Med Genet. 1995. PMID: 7726227

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