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Items: 37

1.

Vertebral artery aneurysm rupture and hemothorax in a patient with neurofibromatosis Type-1: A case report and review of the literature.

Abdulrazeq HF, Goldstein IM, Elsamna ST, Pletcher BA.

Heliyon. 2019 Aug 1;5(8):e02201. doi: 10.1016/j.heliyon.2019.e02201. eCollection 2019 Aug. No abstract available.

2.

Adverse Childhood Experiences: A Case-Based Workshop Introducing Medical Students to Trauma-Informed Care.

Pletcher BA, O'Connor M, Swift-Taylor ME, DallaPiazza M.

MedEdPORTAL. 2019 Feb 9;15:10803. doi: 10.15766/mep_2374-8265.10803.

3.

A Case of Brown-Vialetto-Van Laere Syndrome Due To a Novel Mutation in SLC52A3 Gene: Clinical Course and Response to Riboflavin.

Thulasi V, Veerapandiyan A, Pletcher BA, Tong CM, Ming X.

Child Neurol Open. 2017 Aug 22;4:2329048X17725610. doi: 10.1177/2329048X17725610. eCollection 2017 Jan-Dec.

4.

A Quality Improvement Collaborative to Improve Pediatric Primary Care Genetic Services.

Rinke ML, Driscoll A, Mikat-Stevens N, Healy J, Colantuoni E, Elias AF, Pletcher BA, Gubernick RS, Larson I, Chung WK, Tarini BA.

Pediatrics. 2016 Feb;137(2):e20143874. doi: 10.1542/peds.2014-3874. Epub 2016 Jan 28.

5.

Unraveling Gene Interactions in Patients with Neurofibromatosis Type 1.

Pletcher BA, Hayes-Rosen C.

J Pediatr. 2015 Sep;167(3):511-3. doi: 10.1016/j.jpeds.2015.06.031. Epub 2015 Jul 3. No abstract available.

PMID:
26148658
6.

Pediatric resident debt and career intentions.

Frintner MP, Mulvey HJ, Pletcher BA, Olson LM.

Pediatrics. 2013 Feb;131(2):312-8. doi: 10.1542/peds.2012-0411. Epub 2013 Jan 6.

PMID:
23296437
7.

Tetrasomy 15q26: a distinct syndrome or Shprintzen-Goldberg syndrome phenocopy?

Levy B, Tegay D, Papenhausen P, Tepperberg J, Nahum O, Tsuchida T, Pletcher BA, Ala-Kokko L, Baker S, Frederick B, Hirschhorn K, Warburton P, Shanske A.

Genet Med. 2012 Sep;14(9):811-8. doi: 10.1038/gim.2012.54. Epub 2012 May 31.

PMID:
22653535
8.

Diffuse peritoneal chlamydial infection presenting as possible ovarian peritoneal carcinomatosis in an adolescent female.

Sran SD, Mautone AS, Kolomeyer AM, Cracchiolo BM, Heller DS, Pletcher BA.

J Adolesc Health. 2012 May;50(5):531-3. doi: 10.1016/j.jadohealth.2011.09.011. Epub 2012 Feb 3.

PMID:
22525121
9.

Pulmonary complications of genetic disorders.

Pletcher BA, Turcios NL.

Paediatr Respir Rev. 2012 Mar;13(1):2-9. doi: 10.1016/j.prrv.2011.01.006. Epub 2011 Apr 15. Review.

PMID:
22208787
10.

Primary care pediatricians' satisfaction with subspecialty care, perceived supply, and barriers to care.

Pletcher BA, Rimsza ME, Cull WL, Shipman SA, Shugerman RP, O'Connor KG.

J Pediatr. 2010 Jun;156(6):1011-1015.e1. doi: 10.1016/j.jpeds.2009.12.032. Epub 2010 Mar 15.

PMID:
20227727
11.

Cytogenetics of neurofibromas: two case reports and literature review.

Liu K, DeAngelo P, Mahmet K, Phytides P, Osborne L, Pletcher BA.

Cancer Genet Cytogenet. 2010 Jan 1;196(1):93-5. doi: 10.1016/j.cancergencyto.2009.07.004. Review.

PMID:
19963142
12.

Carrier screening in individuals of Ashkenazi Jewish descent.

Gross SJ, Pletcher BA, Monaghan KG; Professional Practice and Guidelines Committee.

Genet Med. 2008 Jan;10(1):54-6. doi: 10.1097/GIM.0b013e31815f247c.

13.

The future is now: carrier screening for all populations.

Pletcher BA, Gross SJ, Monaghan KG, Driscoll DA, Watson MS.

Genet Med. 2008 Jan;10(1):33-6. doi: 10.1097/GIM.0b013e31815f5934. Review. No abstract available.

PMID:
18197054
14.

Indications for genetic referral: a guide for healthcare providers.

Pletcher BA, Toriello HV, Noblin SJ, Seaver LH, Driscoll DA, Bennett RL, Gross SJ.

Genet Med. 2007 Jun;9(6):385-9. No abstract available.

15.

Prevention of sexual harassment in the workplace and educational settings.

American Academy of Pediatrics Committee on Pediatric Workforce, Pletcher BA.

Pediatrics. 2006 Oct;118(4):1752-6.

PMID:
17015571
16.

Muscle infarction in a 13 year-old female with type 1 diabetes mellitus of short duration.

Umeukeje J, Pletcher BA, Blacksin M, Sharer LR, Wenger P, Singer-Granick C.

J Pediatr Endocrinol Metab. 2006 Aug;19(8):1039-43.

PMID:
16995590
17.

SAPHO osteomyelitis and sarcoid dermatitis in a patient with DiGeorge syndrome.

Jyonouchi H, Lien KW, Aguila H, Spinnato GG, Sabharwal S, Pletcher BA.

Eur J Pediatr. 2006 Jun;165(6):370-3. Epub 2006 Feb 21.

PMID:
16491384
18.

Preconception and prenatal testing of biologic fathers for carrier status. American College of Medical Genetics.

Pletcher BA, Bocian M; American College of Medical Genetics.

Genet Med. 2006 Feb;8(2):134-5. No abstract available.

19.

Fragile X syndrome: diagnostic and carrier testing.

Sherman S, Pletcher BA, Driscoll DA.

Genet Med. 2005 Oct;7(8):584-7.

20.

Delineation of complex chromosomal rearrangements: evidence for increased complexity.

Astbury C, Christ LA, Aughton DJ, Cassidy SB, Fujimoto A, Pletcher BA, Schafer IA, Schwartz S.

Hum Genet. 2004 Apr;114(5):448-57. Epub 2004 Feb 7.

PMID:
14767757
21.

The practice of clinical genetics: a survey of practitioners.

Pletcher BA, Jewett EA, Cull WL, Brotherton SE, Hoyme HE, Pan RJ, Mulvey HJ.

Genet Med. 2002 May-Jun;4(3):142-9.

PMID:
12180149
22.

NF1 microdeletion breakpoints are clustered at flanking repetitive sequences.

Dorschner MO, Sybert VP, Weaver M, Pletcher BA, Stephens K.

Hum Mol Genet. 2000 Jan 1;9(1):35-46.

PMID:
10587576
23.

Filippi syndrome: report of three additional cases.

Williams MS, Williams JL, Wargowski DS, Pauli RM, Pletcher BA.

Am J Med Genet. 1999 Nov 19;87(2):128-33. Review.

PMID:
10533026
24.

Inherited duplication Xq27-qter at Xp22.3 in severely affected males: molecular cytogenetic evaluation and clinical description in three unrelated families.

Goodman BK, Shaffer LG, Rutberg J, Leppert M, Harum K, Gagos S, Ray JH, Bialer MG, Zhou X, Pletcher BA, Shapira SK, Geraghty MT.

Am J Med Genet. 1998 Dec 4;80(4):377-84.

PMID:
9856567
25.

Osteogenesis imperfecta with joint contractures: bruck syndrome.

Blacksin MF, Pletcher BA, David M.

Pediatr Radiol. 1998 Feb;28(2):117-9.

PMID:
9472060
26.

Clinical heterogeneity and prognosis in combined methylmalonic aciduria and homocystinuria (cblC).

Rosenblatt DS, Aspler AL, Shevell MI, Pletcher BA, Fenton WA, Seashore MR.

J Inherit Metab Dis. 1997 Aug;20(4):528-38.

PMID:
9266389
27.

Four sibs with arterial tortuosity: description and review of the literature.

Pletcher BA, Fox JE, Boxer RA, Singh S, Blumenthal D, Cohen T, Brunson S, Tafreshi P, Kahn E.

Am J Med Genet. 1996 Dec 11;66(2):121-8. Review.

PMID:
8958317
28.

Chromosome abnormality in an isolated choroid plexus cyst.

Suslak L, Pletcher BA.

Prenat Diagn. 1995 Mar;15(3):291-2. No abstract available.

PMID:
7784390
29.

Interstitial duplication of proximal 22q: phenotypic overlap with cat eye syndrome.

Knoll JH, Asamoah A, Pletcher BA, Wagstaff J.

Am J Med Genet. 1995 Jan 16;55(2):221-4. Review.

PMID:
7717422
30.

Postnatal confirmation of prenatally diagnosed trisomy 16 mosaicism in two phenotypically abnormal liveborns.

Pletcher BA, Sanz MM, Schlessel JS, Kunaporn S, McKenna C, Bialer MG, Alonso ML, Zaslav AL, Brown WT, Ray JH.

Prenat Diagn. 1994 Oct;14(10):933-40.

PMID:
7899268
31.

Anterior polar cataract in two sisters with an unbalanced 3;18 chromosomal translocation.

Rubin SE, Nelson LB, Pletcher BA.

Am J Ophthalmol. 1994 Apr 15;117(4):512-5.

PMID:
8154535
32.

Congenital bifid sternum: repair in early infancy and literature review.

Greenberg BM, Becker JM, Pletcher BA.

Plast Reconstr Surg. 1991 Nov;88(5):886-9. Review.

PMID:
1924580
33.

Intrauterine cytomegalovirus infection presenting as fetal meconium peritonitis.

Pletcher BA, Williams MK, Mulivor RA, Barth D, Linder C, Rawlinson K.

Obstet Gynecol. 1991 Nov;78(5 Pt 2):903-5.

PMID:
1656350
34.

Familial occurrence of esophageal atresia with and without tracheoesophagel fistula: report of two unusual kindreds.

Pletcher BA, Friedes JS, Breg WR, Touloukian RJ.

Am J Med Genet. 1991 Jun 15;39(4):380-4.

PMID:
1877613
35.

A PPY cDNA clone identifies a frequent RFLP.

Pletcher BA, Takeuchi T, Kidd JR.

Nucleic Acids Res. 1987 Sep 25;15(18):7650. No abstract available.

36.

Searching for a major genetic locus for affective disorder in the Old Order Amish.

Kidd JR, Egeland JA, Pakstis AJ, Castiglione CM, Pletcher BA, Morton LA, Kidd KK.

J Psychiatr Res. 1987;21(4):577-80. No abstract available.

PMID:
2894461
37.

One large kindred excludes a locus for multiple endocrine neoplasia type 2A from about 25% of the human autosomal genetic map.

Pakstis AJ, Kidd JR, Castiglione CM, Pletcher BA, Murphy PD, Farrer LA, Genel M, Kidd KK.

Henry Ford Hosp Med J. 1987;35(2-3):164-7. No abstract available.

PMID:
2891651

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