Abuelo DN - Search Results

1

Cardiac malformation in two infants with hypochondrogenesis.

Potocki L, Abuelo DN, Oyer CE. Potocki L, et al. Among authors: abuelo dn. Am J Med Genet. 1995 Nov 20;59(3):295-9. doi: 10.1002/ajmg.1320590306. Am J Med Genet. 1995. PMID: 8599352 Review.

2

Quantification by flow cytometry of chromosome-17 deletions in Smith-Magenis syndrome patients.

Trask BJ, Mefford H, van den Engh G, Massa HF, Juyal RC, Potocki L, Finucane B, Abuelo DN, Witt DR, Magenis E, Baldini A, Greenberg F, Lupski JR, Patel PI. Trask BJ, et al. Among authors: abuelo dn. Hum Genet. 1996 Dec;98(6):710-8. doi: 10.1007/s004390050291. Hum Genet. 1996. PMID: 8931707

3

Limb defects and congenital anomalies of the genitalia in an infant with homozygous alpha-thalassemia.

Abuelo DN, Forman EN, Rubin LP. Abuelo DN, et al. Am J Med Genet. 1997 Jan 20;68(2):158-61. doi: 10.1002/(sici)1096-8628(19970120)68:2<158::aid-ajmg7>3.0.co;2-l. Am J Med Genet. 1997. PMID: 9028450 Review.

4

Distal 5q trisomy resulting from an X;5 translocation detected by chromosome painting.

Abuelo DN, Ahsanuddin AN, Mark HF. Abuelo DN, et al. Am J Med Genet. 2000 Oct 23;94(5):392-9. doi: 10.1002/1096-8628(20001023)94:5<392::aid-ajmg10>3.0.co;2-h. Am J Med Genet. 2000. PMID: 11050625

5

Lethal osteogenesis imperfecta associated with 46,XY,inv(7)(p13q22) karyotype.

Knisely AS, Richardson A, Abuelo D, Casey S, Singer DB. Knisely AS, et al. J Med Genet. 1988 May;25(5):352-5. doi: 10.1136/jmg.25.5.352. J Med Genet. 1988. PMID: 3385745 Free PMC article.

6

Neurofibromatosis with fully expressed Noonan syndrome.

Abuelo DN, Meryash DL. Abuelo DN, et al. Am J Med Genet. 1988 Apr;29(4):937-41. doi: 10.1002/ajmg.1320290426. Am J Med Genet. 1988. PMID: 3135755

7

Insertional translocations: report of two new families and review of the literature.

Abuelo DN, Barsel-Bowers G, Richardson A. Abuelo DN, et al. Am J Med Genet. 1988 Oct;31(2):319-29. doi: 10.1002/ajmg.1320310209. Am J Med Genet. 1988. PMID: 2852898 Review.

8

Prenatal detection of the cholesterol biosynthetic defect in the Smith-Lemli-Opitz syndrome by the analysis of amniotic fluid sterols.

Abuelo DN, Tint GS, Kelley R, Batta AK, Shefer S, Salen G. Abuelo DN, et al. Am J Med Genet. 1995 Apr 10;56(3):281-5. doi: 10.1002/ajmg.1320560309. Am J Med Genet. 1995. PMID: 7778590

9

Fryns syndrome: a new definition.

Pinar H, Carpenter MW, Abuelo D, Singer DB. Pinar H, et al. Pediatr Pathol. 1994 May-Jun;14(3):467-78. doi: 10.3109/15513819409024276. Pediatr Pathol. 1994. PMID: 8066003 Review.

10

A novel familial 11p15.4 microduplication associated with intellectual disability, dysmorphic features, and obesity with involvement of the ZNF214 gene.

Sofos E, Pescosolido MF, Quintos JB, Abuelo D, Gunn S, Hovanes K, Morrow EM, Shur N. Sofos E, et al. Am J Med Genet A. 2012 Jan;158A(1):50-8. doi: 10.1002/ajmg.a.34290. Epub 2011 Nov 3. Am J Med Genet A. 2012. PMID: 22052655

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