Ruchelli E - Search Results

1

Diaphragmatic hernia in tetrasomy 12p mosaicism.

Bergoffen J, Punnett H, Campbell TJ, Ross AJ 3rd, Ruchelli E, Zackai EH. Bergoffen J, et al. Among authors: ruchelli e. J Pediatr. 1993 Apr;122(4):603-6. doi: 10.1016/s0022-3476(05)83546-2. J Pediatr. 1993. PMID: 8463911

2

Misalignment of pulmonary veins with alveolar capillary dysplasia: affected siblings and variable phenotypic expression.

Boggs S, Harris MC, Hoffman DJ, Goel R, McDonald-McGinn D, Langston C, Zackai E, Ruchelli E. Boggs S, et al. Among authors: ruchelli e. J Pediatr. 1994 Jan;124(1):125-8. doi: 10.1016/s0022-3476(94)70267-5. J Pediatr. 1994. PMID: 8283361

3

Intracytoplasmic sperm injection (ICSI) with transmission of a ring(Y) chromosome and ovotesticular disorder of sex development in offspring.

Spinner NB, Saitta SC, Delaney DP, Colliton R, Zderic SA, Ruchelli E, Zackai E, Kolon TF. Spinner NB, et al. Among authors: ruchelli e. Am J Med Genet A. 2008 Jul 15;146A(14):1828-31. doi: 10.1002/ajmg.a.32358. Am J Med Genet A. 2008. PMID: 18553511

4

Mosaic trisomy 17: variable clinical and cytogenetic presentation.

Daber R, Chapman KA, Ruchelli E, Kasperski S, Mulchandani S, Thiel BD, Hakonarson H, Zackai EH, Conlin LK, Spinner NB. Daber R, et al. Among authors: ruchelli e. Am J Med Genet A. 2011 Oct;155A(10):2489-95. doi: 10.1002/ajmg.a.34172. Am J Med Genet A. 2011. PMID: 21998853 Free PMC article.

5

Heterotaxia in a fetus with campomelia, cervical lymphocele, polysplenia, and multicystic dysplastic kidneys: expanding the phenotype of Cumming syndrome.

Ming JE, McDonald-McGinn DM, Markowitz RI, Ruchelli E, Zackai EH. Ming JE, et al. Among authors: ruchelli e. Am J Med Genet. 1997 Dec 31;73(4):419-24. doi: 10.1002/(sici)1096-8628(19971231)73:4<419::aid-ajmg10>3.0.co;2-u. Am J Med Genet. 1997. PMID: 9415469 Review.

6

On lumping and splitting: a fetus with clinical findings of the oral-facial-digital syndrome type VI, the hydrolethalus syndrome, and the Pallister-Hall syndrome.

Muenke M, Ruchelli ED, Rorke LB, McDonald-McGinn DM, Orlow MK, Isaacs A, Craparo FJ, Dunn LK, Zackai EH. Muenke M, et al. Among authors: ruchelli ed. Am J Med Genet. 1991 Dec 15;41(4):548-56. doi: 10.1002/ajmg.1320410436. Am J Med Genet. 1991. PMID: 1776653

7

Familial and sporadic hyperinsulinism: histopathologic findings and segregation analysis support a single autosomal recessive disorder.

Thornton PS, Sumner AE, Ruchelli ED, Spielman RS, Baker L, Stanley CA. Thornton PS, et al. Among authors: ruchelli ed. J Pediatr. 1991 Nov;119(5):721-4. doi: 10.1016/s0022-3476(05)80286-0. J Pediatr. 1991. PMID: 1941377 Free article.

8

Diagnosis and localization of focal congenital hyperinsulinism by 18F-fluorodopa PET scan.

Hardy OT, Hernandez-Pampaloni M, Saffer JR, Suchi M, Ruchelli E, Zhuang H, Ganguly A, Freifelder R, Adzick NS, Alavi A, Stanley CA. Hardy OT, et al. Among authors: ruchelli e. J Pediatr. 2007 Feb;150(2):140-5. doi: 10.1016/j.jpeds.2006.08.028. J Pediatr. 2007. PMID: 17236890

9

Fetal tracheal occlusion for severe congenital diaphragmatic hernia in humans: a morphometric study of lung parenchyma and muscularization of pulmonary arterioles.

Danzer E, Davey MG, Kreiger PA, Ruchelli ED, Johnson MP, Adzick NS, Flake AW, Hedrick HL. Danzer E, et al. Among authors: ruchelli ed. J Pediatr Surg. 2008 Oct;43(10):1767-75. doi: 10.1016/j.jpedsurg.2008.04.033. J Pediatr Surg. 2008. PMID: 18926205

10

A girl with cystic fibrosis and failure to thrive.

Kamath BM, Bhargava S, Markowitz JE, Ruchelli E, Scanlin TF, Mascarenhas M. Kamath BM, et al. Among authors: ruchelli e. J Pediatr. 2003 Jul;143(1):115-9. doi: 10.1016/S0022-3476(03)00138-0. J Pediatr. 2003. PMID: 12915836 No abstract available.

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