Pepkowitz S - Search Results

1

A study of 534 fetal pathology cases from prenatal diagnosis referrals analyzed from 1989 through 2000.

Laury A, Sanchez-Lara PA, Pepkowitz S, Graham JM Jr. Laury A, et al. Among authors: pepkowitz s. Am J Med Genet A. 2007 Dec 15;143A(24):3107-20. doi: 10.1002/ajmg.a.32094. Am J Med Genet A. 2007. PMID: 18000978

2

Assessment of adrenal function at birth using adrenal glucocorticoid precursor to product ratios to predict short-term neonatal outcomes.

Karsli T, Jain VG, Mhanna M, Wu Q, Pepkowitz SH, Chandler DW, Shekhawat PS. Karsli T, et al. Among authors: pepkowitz sh. Pediatr Res. 2020 Mar;87(4):767-772. doi: 10.1038/s41390-019-0629-8. Epub 2019 Oct 23. Pediatr Res. 2020. PMID: 31645056

3

Clinical and molecular studies in full trisomy 22: further delineation of the phenotype and review of the literature.

Bacino CA, Schreck R, Fischel-Ghodsian N, Pepkowitz S, Prezant TR, Graham JM Jr. Bacino CA, et al. Among authors: pepkowitz s. Am J Med Genet. 1995 May 8;56(4):359-65. doi: 10.1002/ajmg.1320560404. Am J Med Genet. 1995. PMID: 7604844 Review.

4

Prenatal diagnosis and dysmorphic findings in mosaic trisomy 16.

Garber A, Carlson D, Schreck R, Fischel-Ghodsian N, Hsu WT, Oeztas S, Pepkowitz S, Graham JM Jr. Garber A, et al. Among authors: pepkowitz s. Prenat Diagn. 1994 Apr;14(4):257-66. doi: 10.1002/pd.1970140405. Prenat Diagn. 1994. PMID: 8066035

5

Fetal akinesia/hypokinesia sequence: prenatal diagnosis and intra-familial variability.

Bacino CA, Platt LD, Garber A, Carlson D, Pepkowitz S, Lachman RS, Sharony R, Rimoin DL, Graham JM Jr. Bacino CA, et al. Among authors: pepkowitz s. Prenat Diagn. 1993 Nov;13(11):1011-9. doi: 10.1002/pd.1970131102. Prenat Diagn. 1993. PMID: 8140062

6

Diprosopus: a pregastrulation defect involving the head, neural tube, heart, and diaphragm.

Sharony R, Pepkowitz SH, Hixon H, Machin GA, Graham JM Jr. Sharony R, et al. Among authors: pepkowitz sh. Birth Defects Orig Artic Ser. 1993;29(1):201-9. Birth Defects Orig Artic Ser. 1993. PMID: 8280873 No abstract available.

7

Experience with a fetal dysmorphology/pathology service in an academic medical center.

Sharony R, Hixon H, Pepkowitz SH, Carlson DE, Platt LD, Graham JM Jr. Sharony R, et al. Among authors: pepkowitz sh. Birth Defects Orig Artic Ser. 1993;29(1):219-33. Birth Defects Orig Artic Ser. 1993. PMID: 8280875 No abstract available.

8

Cervical teratoma: prenatal diagnosis and long-term follow-up.

Kerner B, Flaum E, Mathews H, Carlson DE, Pepkowitz SH, Hixon H, Graham JM Jr. Kerner B, et al. Among authors: pepkowitz sh. Prenat Diagn. 1998 Jan;18(1):51-9. Prenat Diagn. 1998. PMID: 9483640

9

Familial lissencephaly with cleft palate and severe cerebellar hypoplasia.

Kerner B, Graham JM Jr, Golden JA, Pepkowitz SH, Dobyns WB. Kerner B, et al. Among authors: pepkowitz sh. Am J Med Genet. 1999 Dec 22;87(5):440-5. Am J Med Genet. 1999. PMID: 10594886

10

Diaphanospondylodysostosis: six new cases and exclusion of the candidate genes, PAX1 and MEOX1.

Vatanavicharn N, Graham JM Jr, Curry CJ, Pepkowitz S, Lachman RS, Rimoin DL, Wilcox WR. Vatanavicharn N, et al. Among authors: pepkowitz s. Am J Med Genet A. 2007 Oct 1;143A(19):2292-302. doi: 10.1002/ajmg.a.31934. Am J Med Genet A. 2007. PMID: 17764081

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