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Items: 1 to 50 of 178

1.

Imaging Modalities in Genitourinary Emergencies.

Jakubowski J, Moskovitz J, Leonard NJ.

Emerg Med Clin North Am. 2019 Nov;37(4):785-809. doi: 10.1016/j.emc.2019.07.013. Review.

PMID:
31563208
2.

The novel p.Ser263Phe mutation in the human high-affinity choline transporter 1 (CHT1/SLC5A7) causes a lethal form of fetal akinesia syndrome.

Banerjee M, Arutyunov D, Brandwein D, Janetzki-Flatt C, Kolski H, Hume S, Leonard NJ, Watt J, Lacson A, Baradi M, Leslie EM, Cordat E, Caluseriu O.

Hum Mutat. 2019 Oct;40(10):1676-1683. doi: 10.1002/humu.23828. Epub 2019 Jul 12.

PMID:
31299140
3.

Prevalence of Childhood Permanent Hearing Loss after Early Complex Cardiac Surgery.

Bork KT, To BP, Leonard NJ, Douglas CM, Dinon DA, Leonard EE, Valeriote HA, Usher LF, Robertson CMT.

J Pediatr. 2018 Jul;198:104-109. doi: 10.1016/j.jpeds.2018.02.037. Epub 2018 Apr 6.

PMID:
29631768
4.

On the sustainability of inland fisheries: Finding a future for the forgotten.

Cooke SJ, Allison EH, Beard TD Jr, Arlinghaus R, Arthington AH, Bartley DM, Cowx IG, Fuentevilla C, Leonard NJ, Lorenzen K, Lynch AJ, Nguyen VM, Youn SJ, Taylor WW, Welcomme RL.

Ambio. 2016 Nov;45(7):753-764. Epub 2016 Jun 16.

5.

SPG7 Is an Essential and Conserved Component of the Mitochondrial Permeability Transition Pore.

Shanmughapriya S, Rajan S, Hoffman NE, Higgins AM, Tomar D, Nemani N, Hines KJ, Smith DJ, Eguchi A, Vallem S, Shaikh F, Cheung M, Leonard NJ, Stolakis RS, Wolfers MP, Ibetti J, Chuprun JK, Jog NR, Houser SR, Koch WJ, Elrod JW, Madesh M.

Mol Cell. 2015 Oct 1;60(1):47-62. doi: 10.1016/j.molcel.2015.08.009. Epub 2015 Sep 17.

6.

Transmission of the rare HRAS mutation (c. 173C > T; p.T58I) further illustrates its attenuated phenotype.

Gripp KW, Hopkins E, Serrano A, Leonard NJ, Stabley DL, Sol-Church K.

Am J Med Genet A. 2012 May;158A(5):1095-101. doi: 10.1002/ajmg.a.35294. Epub 2012 Apr 9.

7.
8.

Two-year neurodevelopmental outcomes of infants undergoing neonatal cardiac surgery for interrupted aortic arch: a descriptive analysis.

Joynt CA, Robertson CM, Cheung PY, Nettel-Aguirre A, Joffe AR, Sauve RS, Biggs WS, Leonard NJ, Ross DB, Rebeyka IM; Western Canadian Complex Pediatric Therapies Follow-up Group.

J Thorac Cardiovasc Surg. 2009 Oct;138(4):924-32. doi: 10.1016/j.jtcvs.2009.03.016. Epub 2009 Jun 23.

9.

Costello syndrome associated with novel germline HRAS mutations: an attenuated phenotype?

Gripp KW, Innes AM, Axelrad ME, Gillan TL, Parboosingh JS, Davies C, Leonard NJ, Lapointe M, Doyle D, Catalano S, Nicholson L, Stabley DL, Sol-Church K.

Am J Med Genet A. 2008 Mar 15;146A(6):683-90. doi: 10.1002/ajmg.a.32227.

PMID:
18247425
10.

Atypical facet of Möbius syndrome: association with facioscapulohumeral muscular dystrophy.

Kolski HK, Leonard NJ, Lemmers RJ, Bamforth JS.

Muscle Nerve. 2008 Apr;37(4):526-9.

PMID:
18059038
11.

Autosomal dominant inheritance of spondyloenchondrodysplasia.

Bhargava R, Leonard NJ, Chan AK, Spranger J.

Am J Med Genet A. 2005 Jun 15;135(3):282-8. Review.

PMID:
15887273
12.

Sensorineural hearing loss, striate palmoplantar hyperkeratosis, and knuckle pads in a patient with a novel connexin 26 (GJB2) mutation.

Leonard NJ, Krol AL, Bleoo S, Somerville MJ.

J Med Genet. 2005 Jan;42(1):e2. No abstract available.

13.

Josef Fried. July 21, 1914-August 17, 2001.

Leonard NJ, Blout E.

Biogr Mem Natl Acad Sci. 2003;82:143-56. No abstract available.

PMID:
15046027
14.

A second patient with MCA/MR syndrome with multiple circumferential skin creases.

Leonard NJ.

Am J Med Genet. 2002 Sep 15;112(1):91-4.

PMID:
12239728
15.
16.

Intracranial calcification, retinopathy, and osteopenia: a new syndrome?

Sazgar M, Leonard NJ, Renaud DL, Bhargava R, Sinclair DB.

Pediatr Neurol. 2002 Apr;26(4):324-8.

PMID:
11992766
17.

Medical genetics and patient use of the Internet.

Christian SM, Kieffer SA, Leonard NJ.

Clin Genet. 2001 Sep;60(3):232-6.

PMID:
11595026
18.

Prenatal diagnosis of holoprosencephaly (HPE) in a fetus with a recombinant (18)dup(18q)inv(18)(p11.31q11.2)mat.

Leonard NJ, Tomkins DJ, Demianczuk N.

Prenat Diagn. 2000 Dec;20(12):947-9.

PMID:
11113905
19.

Sacrococcygeal teratoma in two cases of Sotos syndrome.

Leonard NJ, Cole T, Bhargava R, Honoré LH, Watt J.

Am J Med Genet. 2000 Nov 13;95(2):182-4. No abstract available.

PMID:
11078573
20.

Behavior of free-ranging and captive American kestrels under electromagnetic fields.

Fernie KJ, Leonard NJ, Bird DM.

J Toxicol Environ Health A. 2000 Apr 28;59(8):597-603.

PMID:
10839495
21.

Polytopic anomalies with agenesis of the lower vertebral column.

Bohring A, Lewin SO, Reynolds JF, Voigtländer T, Rittinger O, Carey JC, Köpernik M, Smith R, Zackai EH, Leonard NJ, Gritter HL, Bamforth JS, Okun N, McLeod DR, Super M, Powell P, Mundlos S, Hennekam RC, van Langen IM, Viskochil DH, Wiedemann HR, Opitz JM.

Am J Med Genet. 1999 Nov 19;87(2):99-114. Review.

PMID:
10533024
22.
23.

High prevalence of sensorineural hearing loss among survivors of neonatal congenital diaphragmatic hernia. Western Canadian ECMO Follow-up Group.

Robertson CM, Cheung PY, Haluschak MM, Elliott CA, Leonard NJ.

Am J Otol. 1998 Nov;19(6):730-6.

PMID:
9831145
24.

Two pairs of male monozygotic twins discordant for Wiedemann-Beckwith syndrome.

Leonard NJ, Bernier FP, Rudd N, Machin GA, Bamforth F, Bamforth S, Grundy P, Johnson C.

Am J Med Genet. 1996 Jan 22;61(3):253-7.

PMID:
8741870
25.
26.
27.
28.

The raspberry locus of Drosophila melanogaster includes an inosine monophosphate dehydrogenase like coding sequence.

Nash D, Hu S, Leonard NJ, Tiong SY, Fillips D.

Genome. 1994 Apr;37(2):333-44.

PMID:
7911114
30.

Which 3-ribofuranosyl-substituted purine 5'-phosphates undergo template-directed oligomerization?

Hill AR Jr, Kumar S, Patil VD, Leonard NJ, Orgel LE.

J Mol Evol. 1991 Jun;32(6):447-53.

PMID:
1651397
32.

Structure of 3-isoinosine.

Kumar S, Patil VD, Wilson SR, Leonard NJ.

Acta Crystallogr C. 1989 Sep 15;45 ( Pt 9):1394-7.

PMID:
2604954
33.

Nonenzymatic synthesis of 5-aminoimidazole ribonucleoside and recognition of its facile rearrangement.

Groziak MP, Bhat B, Leonard NJ.

Proc Natl Acad Sci U S A. 1988 Oct;85(19):7174-6.

34.

Synthetic peptide analogues differentially alter the binding affinities of cyclic nucleotide dependent protein kinases for nucleotide substrates.

Bhatnagar D, Glass DB, Roskoski R Jr, Lessor RA, Leonard NJ.

Biochemistry. 1988 Mar 22;27(6):1988-94.

PMID:
2837278
35.

Structure of 3-isoadenosine.

Kumar S, Wilson SR, Leonard NJ.

Acta Crystallogr C. 1988 Mar 15;44 ( Pt 3):508-10.

PMID:
3271070
36.

Template-directed oligomerization of 3-isoadenosine 5'-phosphate.

Hill AR Jr, Kumar S, Leonard NJ, Orgel LE.

J Mol Evol. 1988;27(2):91-5.

PMID:
3137356
37.

A general and convenient synthesis of 7-alkyladenines from adenine by regioselective alkylation utilizing blocking/deblocking at the 3-position.

Leonard NJ, Fujii T, Saito T.

Chem Pharm Bull (Tokyo). 1986 May;34(5):2037-43. No abstract available.

PMID:
3742650
38.

Substituted ethenoadenosines and ethenocytidines.

Leonard NJ, Cruickshank KA.

IARC Sci Publ. 1986;(70):33-6. No abstract available.

PMID:
3793183
39.

Relatives of Watson-Crick DNA, RNA cross sections.

Leonard NJ, Cruickshank KA, Groziak MP, Clauson GL, Devadas B.

Ann N Y Acad Sci. 1986;471:255-65. No abstract available.

PMID:
2425693
40.

Interaction of guanosine cyclic 3',5'-phosphate dependent protein kinase with lin-benzoadenine nucleotides.

Bhatnagar D, Glass DB, Roskoski R Jr, Lessor RA, Leonard NJ.

Biochemistry. 1985 Feb 26;24(5):1122-9.

PMID:
3006744
41.

Adenylates: bound and unbound.

Leonard NJ.

Biopolymers. 1985 Jan;24(1):9-28. Review. No abstract available.

PMID:
3886035
42.

Adenosine cyclic 3',5'-monophosphate dependent protein kinase: nucleotide binding to the chemically modified catalytic subunit.

Bhatnagar D, Hartl FT, Roskoski R Jr, Lessor RA, Leonard NJ.

Biochemistry. 1984 Sep 11;23(19):4350-7.

PMID:
6487604
43.

Synthesis and biochemical evaluation of 2'-deoxy-lin-benzoadenosine phosphates.

Lessor RA, Gibson KJ, Leonard NJ.

Biochemistry. 1984 Aug 14;23(17):3868-73.

PMID:
6487584
44.
45.

Azido auxins: quantitative binding data in maize.

Jones AM, Melhado LL, Ho TH, Leonard NJ.

Plant Physiol. 1984 Feb;74(2):295-301.

46.

Azido auxins : photolysis in solution and covalent binding to soybean.

Melhado LL, Jones AM, Ho TH, Leonard NJ.

Plant Physiol. 1984 Feb;74(2):289-94.

47.

Nucleoside 5'-(beta, gamma-peroxytriphosphates).

Gibson KJ, Leonard NJ.

Biochemistry. 1984 Jan 3;23(1):78-85.

PMID:
6318817
48.

Etheno-substituted nucleotides and coenzymes: fluorescence and biological activity.

Leonard NJ.

CRC Crit Rev Biochem. 1984;15(2):125-99. Review. No abstract available.

PMID:
6365449
50.

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