PubMed

Relative efficiencies of plasma catechol levels and ratios for neonatal diagnosis of menkes disease.

Goldstein DS, Holmes CS, Kaler SG.

Neurochem Res. 2009 Aug;34(8):1464-8. Epub 2009 Feb 21.PMID: 19234788 [PubMed - indexed for MEDLINE]Related articles

Translational read-through of a nonsense mutation in ATP7A impacts treatment outcome in Menkes disease.

Kaler SG, Tang J, Donsante A, Kaneski CR.

Ann Neurol. 2009 Jan;65(1):108-13.PMID: 19194885 [PubMed - indexed for MEDLINE]Related articles

Role of copper in human neurological disorders.

Desai V, Kaler SG.

Am J Clin Nutr. 2008 Sep;88(3):855S-8S.PMID: 18779308 [PubMed - indexed for MEDLINE]Related articlesFree article

Clinical outcomes in Menkes disease patients with a copper-responsive ATP7A mutation, G727R.

Tang J, Donsante A, Desai V, Patronas N, Kaler SG.

Mol Genet Metab. 2008 Nov;95(3):174-81. Epub 2008 Aug 26.PMID: 18752978 [PubMed - indexed for MEDLINE]Related articlesFree article

Diseases of poverty with high mortality in infants and children: malaria, measles, lower respiratory infections, and diarrheal illnesses.

Kaler SG.

Ann N Y Acad Sci. 2008;1136:28-31.PMID: 18579873 [PubMed - indexed for MEDLINE]Related articles

Reducing the impact of poverty on health and human development: scientific approaches. Preface.

Kaler SG, Rennert OM.

Ann N Y Acad Sci. 2008;1136:xi-xii. No abstract available. PMID: 18579872 [PubMed - indexed for MEDLINE]Related articles

Neonatal diagnosis and treatment of Menkes disease.

Kaler SG, Holmes CS, Goldstein DS, Tang J, Godwin SC, Donsante A, Liew CJ, Sato S, Patronas N.

N Engl J Med. 2008 Feb 7;358(6):605-14.PMID: 18256395 [PubMed - indexed for MEDLINE]Related articlesFree article

Non-random maternal X-chromosome inactivation associated with PHACES.

Levin JH, Kaler SG.

Clin Genet. 2007 Oct;72(4):345-50.PMID: 17850631 [PubMed - indexed for MEDLINE]Related articles

Differences in ATP7A gene expression underlie intrafamilial variability in Menkes disease/occipital horn syndrome.

Donsante A, Tang J, Godwin SC, Holmes CS, Goldstein DS, Bassuk A, Kaler SG.

J Med Genet. 2007 Aug;44(8):492-7. Epub 2007 May 11. Erratum in: J Med Genet. 2008 Jan;45(1):64. PMID: 17496194 [PubMed - indexed for MEDLINE]Related articles

Internal jugular phlebectasia in Menkes disease.

Price DJ, Ravindranath T, Kaler SG.

Int J Pediatr Otorhinolaryngol. 2007 Jul;71(7):1145-8. Epub 2007 May 4.PMID: 17482283 [PubMed - indexed for MEDLINE]Related articles

Safety of intracerebroventricular copper histidine in adult rats.

Lem KE, Brinster LR, Tjurmina O, Lizak M, Lal S, Centeno JA, Liu PC, Godwin SC, Kaler SG.

Mol Genet Metab. 2007 May;91(1):30-6. Epub 2007 Mar 1.PMID: 17336116 [PubMed - indexed for MEDLINE]Related articlesFree article

Functional copper transport explains neurologic sparing in occipital horn syndrome.

Tang J, Robertson S, Lem KE, Godwin SC, Kaler SG.

Genet Med. 2006 Nov;8(11):711-8.PMID: 17108763 [PubMed - indexed for MEDLINE]Related articles

Brachial artery aneurysms in Menkes disease.

Godwin SC, Shawker T, Chang B, Kaler SG.

J Pediatr. 2006 Sep;149(3):412-5.PMID: 16939759 [PubMed - indexed for MEDLINE]Related articles

Severe bilateral panlobular emphysema and pulmonary arterial hypoplasia: unusual manifestations of Menkes disease.

Grange DK, Kaler SG, Albers GM, Petterchak JA, Thorpe CM, DeMello DE.

Am J Med Genet A. 2005 Dec 1;139A(2):151-5.PMID: 16278898 [PubMed - indexed for MEDLINE]Related articles

Copper-replacement treatment for symptomatic Menkes disease: ethical considerations.

Sheela SR, Latha M, Liu P, Lem K, Kaler SG.

Clin Genet. 2005 Sep;68(3):278-83.PMID: 16098018 [PubMed - indexed for MEDLINE]Related articles

Downregulation of myelination, energy, and translational genes in Menkes disease brain.

Liu PC, Chen YW, Centeno JA, Quezado M, Lem K, Kaler SG.

Mol Genet Metab. 2005 Aug;85(4):291-300.PMID: 15923132 [PubMed - indexed for MEDLINE]Related articles

Mutation in the leucine-rich repeat C-flanking region of platelet glycoprotein Ib beta impairs assembly of von Willebrand factor receptor.

Tang J, Stern-Nezer S, Liu PC, Matyakhina L, Riordan M, Luban NL, Steinbach PJ, Kaler SG.

Thromb Haemost. 2004 Jul;92(1):75-88.PMID: 15213848 [PubMed - indexed for MEDLINE]Related articles

Genomic organization of ATOX1, a human copper chaperone.

Liu PC, Koeller DM, Kaler SG.

BMC Genet. 2003 Feb 5;4:4.PMID: 12594858 [PubMed - indexed for MEDLINE]Related articlesFree article

Rapid and robust screening of the Menkes disease/occipital horn syndrome gene.

Liu PC, McAndrew PE, Kaler SG.

Genet Test. 2002 Winter;6(4):255-60.PMID: 12537648 [PubMed - indexed for MEDLINE]Related articles

Menkes' syndrome: ophthalmic findings.

Gasch AT, Caruso RC, Kaler SG, Kaiser-Kupfer M.

Ophthalmology. 2002 Aug;109(8):1477-83.PMID: 12153799 [PubMed - indexed for MEDLINE]Related articles

Genotyping of two mutations in the HFE gene using single-base extension and high-performance liquid chromatography.

Devaney JM, Pettit EL, Kaler SG, Vallone PM, Butler JM, Marino MA.

Anal Chem. 2001 Feb 1;73(3):620-4.PMID: 11217771 [PubMed - indexed for MEDLINE]Related articles

Novel method for molecular detection of the two common hereditary hemochromatosis mutations.

Kaler SG, Devaney JM, Pettit EL, Kirshman R, Marino MA.

Genet Test. 2000;4(2):125-9.PMID: 10953951 [PubMed - indexed for MEDLINE]Related articles

Metabolic and molecular bases of Menkes disease and occipital horn syndrome.

Kaler SG.

Pediatr Dev Pathol. 1998 Jan-Feb;1(1):85-98. Review.PMID: 10463276 [PubMed - indexed for MEDLINE]Related articles

Menkes disease.

Gasch AT, Kaler SG, Kaiser-Kupfer M.

Ophthalmology. 1999 Mar;106(3):442-3. No abstract available. PMID: 10080197 [PubMed - indexed for MEDLINE]Related articles

Diagnosis and therapy of Menkes syndrome, a genetic form of copper deficiency.

Kaler SG.

Am J Clin Nutr. 1998 May;67(5 Suppl):1029S-1034S. Review.PMID: 9587147 [PubMed - indexed for MEDLINE]Related articlesFree article

Prenatal diagnosis of Menkes disease.

Kaler SG, Tümer Z.

Prenat Diagn. 1998 Mar;18(3):287-9. Review. No abstract available. PMID: 9556046 [PubMed - indexed for MEDLINE]Related articles

Dopamine beta-hydroxylase deficiency associated with mutations in a copper transporter gene.

Kaler SG, Holmes CS, Goldstein DS.

Adv Pharmacol. 1998;42:66-8. No abstract available. PMID: 9327848 [PubMed - indexed for MEDLINE]Related articles

Catecholamine phenotyping: clues to the diagnosis, treatment, and pathophysiology of neurogenetic disorders.

Goldstein DS, Lenders JW, Kaler SG, Eisenhofer G.

J Neurochem. 1996 Nov;67(5):1781-90. Review.PMID: 8863481 [PubMed - indexed for MEDLINE]Related articles

Distinctive Menkes disease variant with occipital horns: delineation of natural history and clinical phenotype.

Proud VK, Mussell HG, Kaler SG, Young DW, Percy AK.

Am J Med Genet. 1996 Oct 2;65(1):44-51.PMID: 8914740 [PubMed - indexed for MEDLINE]Related articles

Menkes disease mutations and response to early copper histidine treatment.

Kaler SG.

Nat Genet. 1996 May;13(1):21-2. No abstract available. PMID: 8673098 [PubMed - indexed for MEDLINE]Related articles

Successful early copper therapy in Menkes disease associated with a mutant transcript containing a small In-frame deletion.

Kaler SG, Das S, Levinson B, Goldstein DS, Holmes CS, Patronas NJ, Packman S, Gahl WA.

Biochem Mol Med. 1996 Feb;57(1):37-46.PMID: 8812725 [PubMed - indexed for MEDLINE]Related articles

Early copper therapy in classic Menkes disease patients with a novel splicing mutation.

Kaler SG, Buist NR, Holmes CS, Goldstein DS, Miller RC, Gahl WA.

Ann Neurol. 1995 Dec;38(6):921-8.PMID: 8526465 [PubMed - indexed for MEDLINE]Related articles

Menkes disease and occipital horn syndrome.

Kaler SG.

Can Assoc Radiol J. 1995 Dec;46(6):480. No abstract available. PMID: 7583733 [PubMed - indexed for MEDLINE]Related articles

Occipital horn syndrome and a mild Menkes phenotype associated with splice site mutations at the MNK locus.

Kaler SG, Gallo LK, Proud VK, Percy AK, Mark Y, Segal NA, Goldstein DS, Holmes CS, Gahl WA.

Nat Genet. 1994 Oct;8(2):195-202.PMID: 7842019 [PubMed - indexed for MEDLINE]Related articles

Metallothionein synthesis and degradation in Indian childhood cirrhosis fibroblasts.

Hahn SH, Brantly ML, Oliver C, Adamson M, Kaler SG, Gahl WA.

Pediatr Res. 1994 Feb;35(2):197-204.PMID: 8165055 [PubMed - indexed for MEDLINE]Related articles

Menkes disease.

Kaler SG.

Adv Pediatr. 1994;41:263-304. Review. No abstract available. Erratum in: Adv Pediatr 1995;42:xxxi. PMID: 7992686 [PubMed - indexed for MEDLINE]Related articles

Application of a copper blotting method to the study of Menkes disease.

Kaler SG, Gahl WA.

Biol Trace Elem Res. 1993 Jul;38(1):73-81.PMID: 7691134 [PubMed - indexed for MEDLINE]Related articles

Spectrum of EEG findings in Menkes disease.

White SR, Reese K, Sato S, Kaler SG.

Electroencephalogr Clin Neurophysiol. 1993 Jul;87(1):57-61.PMID: 7687955 [PubMed - indexed for MEDLINE]Related articles

Plasma and cerebrospinal fluid neurochemical pattern in Menkes disease.

Kaler SG, Goldstein DS, Holmes C, Salerno JA, Gahl WA.

Ann Neurol. 1993 Feb;33(2):171-5.PMID: 8434878 [PubMed - indexed for MEDLINE]Related articles

Gastrointestinal hemorrhage associated with gastric polyps in Menkes disease.

Kaler SG, Westman JA, Bernes SM, Elsayed AM, Bowe CM, Freeman KL, Wu CD, Wallach MT.

J Pediatr. 1993 Jan;122(1):93-5.PMID: 8419622 [PubMed - indexed for MEDLINE]Related articles

Predictive value of plasma catecholamine levels in neonatal detection of Menkes disease.

Kaler SG, Gahl WA, Berry SA, Holmes CS, Goldstein DS.

J Inherit Metab Dis. 1993;16(5):907-8. No abstract available. PMID: 8295415 [PubMed - indexed for MEDLINE]Related articles

New autosomal recessive syndrome of sparse hair, osteopenia, and mental retardation in Mennonite sisters.

Kaler SG, Garrity AM, Stern HJ, Rosenbaum KN, Orrison BM, Marini JC, Bernardini I, Saal HM.

Am J Med Genet. 1992 Aug 1;43(6):983-8.PMID: 1415349 [PubMed - indexed for MEDLINE]Related articles

Human manganese superoxide dismutase is readily detectable by a copper blotting technique.

Kaler SG, Maraia RJ, Gahl WA.

Biochem Med Metab Biol. 1991 Dec;46(3):406-15.PMID: 1793616 [PubMed - indexed for MEDLINE]Related articles

Swallowing dysfunction in nephropathic cystinosis.

Sonies BC, Ekman EF, Andersson HC, Adamson MD, Kaler SG, Markello TC, Gahl WA.

N Engl J Med. 1990 Aug 30;323(9):565-70.PMID: 2381441 [PubMed - indexed for MEDLINE]Related articles

Fire setting and Klinefelter syndrome.

Kaler SG, White BJ, Kruesi MJ.

Pediatrics. 1989 Oct;84(4):749-50. No abstract available. PMID: 2780145 [PubMed - indexed for MEDLINE]Related articles

Hypertrichosis and congenital anomalies associated with maternal use of minoxidil.

Kaler SG, Patrinos ME, Lambert GH, Myers TF, Karlman R, Anderson CL.

Pediatrics. 1987 Mar;79(3):434-6. No abstract available. PMID: 3547299 [PubMed - indexed for MEDLINE]Related articles

Metacarpophalangeal pattern profile analysis in clinical genetics: an applied anthropometric method.

Butler MG, Meaney FJ, Kaler SG.

Am J Phys Anthropol. 1986 Jun;70(2):195-201.PMID: 3740246 [PubMed - indexed for MEDLINE]Related articles

Brief clinical report: two children with de novo del(9p).

Young RS, Bader P, Palmer CG, Kaler SG, Hodes ME.

Am J Med Genet. 1983 Apr;14(4):751-7.PMID: 6846405 [PubMed - indexed for MEDLINE]Related articles

Metacarpophalangeal pattern profile analysis in Prader-Willi syndrome.

Butler MG, Kaler SG, Yu PL, Meaney FJ.

Clin Genet. 1982 Dec;22(6):315-20.PMID: 7160103 [PubMed - indexed for MEDLINE]Related articles

Radiographic hand abnormalities in fifteen cases of Crouzon syndrome.

Kaler SG, Bixler D, Yu PL.

J Craniofac Genet Dev Biol. 1982;2(3):205-13.PMID: 7166594 [PubMed - indexed for MEDLINE]Related articles