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Items: 1 to 20 of 34

1.

Chorionic villus sampling fails to confirm mosaic trisomy 21 fetus after positive cell-free DNA.

Uquillas K, Chan Y, King JR, Randolph LM, Incerpi M.

Prenat Diagn. 2017 Mar;37(3):296-298. doi: 10.1002/pd.4992. Epub 2017 Feb 9. No abstract available.

PMID:
28004393
2.

Phenotype of 7q11.23 duplication: A family clinical series.

Earhart BA, Williams ME, Zamora I, Randolph LM, Votava-Smith JK, Marcy SN.

Am J Med Genet A. 2017 Jan;173(1):114-119. doi: 10.1002/ajmg.a.37966. Epub 2016 Sep 12.

PMID:
27615053
3.

Generalized Arterial Calcification in a Recipient Twin: Discordant Fetal Hemodynamics Result in Differing Phenotypes in Monozygotic Twins with an ABCC6 Mutation.

Votava-Smith JK, Pitukcheewanont P, Randolph LM, Chmait RH.

Fetal Diagn Ther. 2016 Mar 17. [Epub ahead of print]

PMID:
26982014
4.

Regions of homozygosity identified by oligonucleotide SNP arrays: evaluating the incidence and clinical utility.

Wang JC, Ross L, Mahon LW, Owen R, Hemmat M, Wang BT, El Naggar M, Kopita KA, Randolph LM, Chase JM, Matas Aguilera MJ, Siles JL, Church JA, Hauser N, Shen JJ, Jones MC, Wierenga KJ, Jiang Z, Haddadin M, Boyar FZ, Anguiano A, Strom CM, Sahoo T.

Eur J Hum Genet. 2015 May;23(5):663-71. doi: 10.1038/ejhg.2014.153. Epub 2014 Aug 13.

5.

Treatment of alpha(0)-thalassemia (--(SEA)/--(SEA)) via serial fetal and post-natal transfusions: Can early fetal intervention improve outcomes?

Chmait RH, Baskin JL, Carson S, Randolph LM, Hamilton A.

Hematology. 2015 May;20(4):217-22. doi: 10.1179/1607845414Y.0000000187. Epub 2014 Aug 12.

PMID:
25116001
6.

Labelling Polymers and Micellar Nanoparticles via Initiation, Propagation and Termination with ROMP.

Thompson MP, Randolph LM, James CR, Davalos AN, Hahn ME, Gianneschi NC.

Polym Chem. 2014 Mar 21;5(6):1954-1964.

7.

The childless man.

Scheuerle AE, Picconi JL, Neidich J, Panny S, Plecher BA, Randolph LM, Trapane P, Trotter TL.

Am J Med Genet A. 2014 Feb;164A(2):561. doi: 10.1002/ajmg.a.36290. Epub 2013 Dec 5. No abstract available.

PMID:
24311465
8.

Galsulfase (Naglazyme®) therapy in infants with mucopolysaccharidosis VI.

Harmatz PR, Garcia P, Guffon N, Randolph LM, Shediac R, Braunlin E, Lachman RS, Decker C.

J Inherit Metab Dis. 2014 Mar;37(2):277-87. doi: 10.1007/s10545-013-9654-7. Epub 2013 Oct 10.

9.

Investigation of NRXN1 deletions: clinical and molecular characterization.

Dabell MP, Rosenfeld JA, Bader P, Escobar LF, El-Khechen D, Vallee SE, Dinulos MB, Curry C, Fisher J, Tervo R, Hannibal MC, Siefkas K, Wyatt PR, Hughes L, Smith R, Ellingwood S, Lacassie Y, Stroud T, Farrell SA, Sanchez-Lara PA, Randolph LM, Niyazov D, Stevens CA, Schoonveld C, Skidmore D, MacKay S, Miles JH, Moodley M, Huillet A, Neill NJ, Ellison JW, Ballif BC, Shaffer LG.

Am J Med Genet A. 2013 Apr;161A(4):717-31. doi: 10.1002/ajmg.a.35780. Epub 2013 Mar 12.

PMID:
23495017
10.

Polymerization of a peptide-based enzyme substrate.

Hahn ME, Randolph LM, Adamiak L, Thompson MP, Gianneschi NC.

Chem Commun (Camb). 2013 Apr 11;49(28):2873-5. doi: 10.1039/c3cc40472b.

11.

Biological stimuli and biomolecules in the assembly and manipulation of nanoscale polymeric particles.

Randolph LM, Chien MP, Gianneschi NC.

Chem Sci. 2012 May 1;3(5). doi: 10.1039/C2SC00857B.

12.

Prevalence of noncardiac structural anomalies in twin-twin transfusion syndrome.

Patel S, Randolph LM, Benirschke K, Llanes A, Yedigarova L, Chmait RH.

J Ultrasound Med. 2012 Apr;31(4):555-60.

PMID:
22441911
13.

Microdeletion del(22)(q12.2) encompassing the facial development-associated gene, MN1 (meningioma 1) in a child with Pierre-Robin sequence (including cleft palate) and neurofibromatosis 2 (NF2): a case report and review of the literature.

Davidson TB, Sanchez-Lara PA, Randolph LM, Krieger MD, Wu SQ, Panigrahy A, Shimada H, Erdreich-Epstein A.

BMC Med Genet. 2012 Mar 22;13:19. doi: 10.1186/1471-2350-13-19. Review.

14.

Fatal infantile lactic acidosis and a novel homozygous mutation in the SUCLG1 gene: a mitochondrial DNA depletion disorder.

Randolph LM, Jackson HA, Wang J, Shimada H, Sanchez-Lara PA, Wong DA, Wong LJ, Boles RG.

Mol Genet Metab. 2011 Feb;102(2):149-52. doi: 10.1016/j.ymgme.2010.10.014. Epub 2010 Oct 30.

PMID:
21093335
15.

Discordant blood chimerism in dizygotic monochorionic laser-treated twin-twin transfusion syndrome.

Assaf SA, Randolph LM, Benirschke K, Wu S, Samadi R, Chmait RH.

Obstet Gynecol. 2010 Aug;116 Suppl 2:483-5. doi: 10.1097/AOG.0b013e3181e4bec7.

PMID:
20664426
16.

Hypoplastic left heart syndrome in patients with Kabuki syndrome.

Kung GC, Chang PM, Sklansky MS, Randolph LM.

Pediatr Cardiol. 2010 Jan;31(1):138-41. doi: 10.1007/s00246-009-9554-7. Epub 2009 Dec 5.

PMID:
19967352
17.

L1CAM mutation in association with X-linked hydrocephalus and Hirschsprung's disease.

Jackson SR, Guner YS, Woo R, Randolph LM, Ford H, Shin CE.

Pediatr Surg Int. 2009 Sep;25(9):823-5. doi: 10.1007/s00383-009-2420-0. Epub 2009 Jul 30.

18.

Agenesis of the ductus venosus in a fetus with nonmosaic trisomy 22.

Barseghyan K, Sklansky MS, Paquette LB, Randolph LM, Miller DA.

Prenat Diagn. 2009 Sep;29(9):901-2. doi: 10.1002/pd.2309. No abstract available.

PMID:
19499517
19.

Efficacy of sapropterin dihydrochloride in increasing phenylalanine tolerance in children with phenylketonuria: a phase III, randomized, double-blind, placebo-controlled study.

Trefz FK, Burton BK, Longo N, Casanova MM, Gruskin DJ, Dorenbaum A, Kakkis ED, Crombez EA, Grange DK, Harmatz P, Lipson MH, Milanowski A, Randolph LM, Vockley J, Whitley CB, Wolff JA, Bebchuk J, Christ-Schmidt H, Hennermann JB; Sapropterin Study Group..

J Pediatr. 2009 May;154(5):700-7. doi: 10.1016/j.jpeds.2008.11.040. Epub 2009 Mar 4.

PMID:
19261295
20.

Leading beyond the bottom line, Part 4. The questions it has raised.

Schenke R, Berkowitz E, Ludden JM, Gaintner JR, Hickey ME, Hodge RH Jr, Randolph LM Jr.

Physician Exec. 2001 Mar-Apr;27(2):8-11.

PMID:
11291227

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