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Items: 1 to 50 of 75

1.

Sex-chromosome dosage effects on gene expression in humans.

Raznahan A, Parikshak NN, Chandran V, Blumenthal JD, Clasen LS, Alexander-Bloch AF, Zinn AR, Wangsa D, Wise J, Murphy DGM, Bolton PF, Ried T, Ross J, Giedd JN, Geschwind DH.

Proc Natl Acad Sci U S A. 2018 Jul 10;115(28):7398-7403. doi: 10.1073/pnas.1802889115. Epub 2018 Jun 26.

PMID:
29946024
2.

Evolution of the skin manifestations of X-linked pigmentary reticulate disorder.

Starokadomskyy P, Sifuentes-Dominguez L, Gemelli T, Zinn AR, Dossi MT, Mellado C, Bertrand P, Borzutzky A, Burstein E.

Br J Dermatol. 2017 Nov;177(5):e200-e201. doi: 10.1111/bjd.15586. Epub 2017 Oct 8. No abstract available.

PMID:
28407217
3.

Identification of 15 novel partial SHOX deletions and 13 partial duplications, and a review of the literature reveals intron 3 to be a hotspot region.

Benito-Sanz S, Belinchon-Martínez A, Aza-Carmona M, de la Torre C, Huber C, González-Casado I, Ross JL, Thomas NS, Zinn AR, Cormier-Daire V, Heath KE.

J Hum Genet. 2017 Feb;62(2):229-234. doi: 10.1038/jhg.2016.113. Epub 2016 Sep 8. Review.

PMID:
27604558
4.

DNA polymerase-α regulates the activation of type I interferons through cytosolic RNA:DNA synthesis.

Starokadomskyy P, Gemelli T, Rios JJ, Xing C, Wang RC, Li H, Pokatayev V, Dozmorov I, Khan S, Miyata N, Fraile G, Raj P, Xu Z, Xu Z, Ma L, Lin Z, Wang H, Yang Y, Ben-Amitai D, Orenstein N, Mussaffi H, Baselga E, Tadini G, Grunebaum E, Sarajlija A, Krzewski K, Wakeland EK, Yan N, de la Morena MT, Zinn AR, Burstein E.

Nat Immunol. 2016 May;17(5):495-504. doi: 10.1038/ni.3409. Epub 2016 Mar 28.

5.

Sim1 inhibits bone formation by enhancing the sympathetic tone in male mice.

Wang X, Wei W, Zinn AR, Wan Y.

Endocrinology. 2015 Apr;156(4):1408-15. doi: 10.1210/en.2014-1872. Epub 2015 Jan 21.

6.

Behavioral phenotypes in males with XYY and possible role of increased NLGN4Y expression in autism features.

Ross JL, Tartaglia N, Merry DE, Dalva M, Zinn AR.

Genes Brain Behav. 2015 Feb;14(2):137-44. doi: 10.1111/gbb.12200. Epub 2015 Feb 1.

7.

Inducible neuronal inactivation of Sim1 in adult mice causes hyperphagic obesity.

Tolson KP, Gemelli T, Meyer D, Yazdani U, Kozlitina J, Zinn AR.

Endocrinology. 2014 Jul;155(7):2436-44. doi: 10.1210/en.2013-2125. Epub 2014 Apr 28.

8.

Hyperphagia: current concepts and future directions proceedings of the 2nd international conference on hyperphagia.

Heymsfield SB, Avena NM, Baier L, Brantley P, Bray GA, Burnett LC, Butler MG, Driscoll DJ, Egli D, Elmquist J, Forster JL, Goldstone AP, Gourash LM, Greenway FL, Han JC, Kane JG, Leibel RL, Loos RJ, Scheimann AO, Roth CL, Seeley RJ, Sheffield V, Tauber M, Vaisse C, Wang L, Waterland RA, Wevrick R, Yanovski JA, Zinn AR.

Obesity (Silver Spring). 2014 Feb;22 Suppl 1:S1-S17. doi: 10.1002/oby.20646.

9.

Screening and familial characterization of copy-number variations in NR5A1 in 46,XY disorders of sex development and premature ovarian failure.

Harrison SM, Campbell IM, Keays M, Granberg CF, Villanueva C, Tannin G, Zinn AR, Castrillon DH, Shaw CA, Stankiewicz P, Baker LA.

Am J Med Genet A. 2013 Oct;161A(10):2487-94. doi: 10.1002/ajmg.a.36084. Epub 2013 Aug 5.

10.

Behavioral and social phenotypes in boys with 47,XYY syndrome or 47,XXY Klinefelter syndrome.

Ross JL, Roeltgen DP, Kushner H, Zinn AR, Reiss A, Bardsley MZ, McCauley E, Tartaglia N.

Pediatrics. 2012 Apr;129(4):769-78. doi: 10.1542/peds.2011-0719. Epub 2012 Mar 12.

11.

Submicroscopic chromosomal copy number variations identified in children with hypoplastic left heart syndrome.

Payne AR, Chang SW, Koenig SN, Zinn AR, Garg V.

Pediatr Cardiol. 2012 Jun;33(5):757-63. doi: 10.1007/s00246-012-0208-9. Epub 2012 Feb 21.

PMID:
22349727
12.

Human balanced translocation and mouse gene inactivation implicate Basonuclin 2 in distal urethral development.

Bhoj EJ, Ramos P, Baker LA, Garg V, Cost N, Nordenskjöld A, Elder FF, Bleyl SB, Bowles NE, Arrington CB, Delhomme B, Vanhoutteghem A, Djian P, Zinn AR.

Eur J Hum Genet. 2011 May;19(5):540-6. doi: 10.1038/ejhg.2010.245. Epub 2011 Feb 2. Erratum in: Eur J Hum Genet. 2012 Feb;20(2):249. Garg, Vidu [added].

13.

Clinical and molecular evaluation of SHOX/PAR1 duplications in Leri-Weill dyschondrosteosis (LWD) and idiopathic short stature (ISS).

Benito-Sanz S, Barroso E, Heine-Suñer D, Hisado-Oliva A, Romanelli V, Rosell J, Aragones A, Caimari M, Argente J, Ross JL, Zinn AR, Gracia R, Lapunzina P, Campos-Barros A, Heath KE.

J Clin Endocrinol Metab. 2011 Feb;96(2):E404-12. doi: 10.1210/jc.2010-1689. Epub 2010 Dec 8.

PMID:
21147883
14.

Unconventional wisdom about the obesity epidemic.

Zinn AR.

Am J Med Sci. 2010 Dec;340(6):481-91. doi: 10.1097/MAJ.0b013e3181ccb980. Review.

PMID:
21119332
15.

UBE2A deficiency syndrome: Mild to severe intellectual disability accompanied by seizures, absent speech, urogenital, and skin anomalies in male patients.

de Leeuw N, Bulk S, Green A, Jaeckle-Santos L, Baker LA, Zinn AR, Kleefstra T, van der Smagt JJ, Vianne Morgante AM, de Vries BB, van Bokhoven H, de Brouwer AP.

Am J Med Genet A. 2010 Dec;152A(12):3084-90. doi: 10.1002/ajmg.a.33743.

PMID:
21108393
16.

A serotonin and melanocortin circuit mediates D-fenfluramine anorexia.

Xu Y, Jones JE, Lauzon DA, Anderson JG, Balthasar N, Heisler LK, Zinn AR, Lowell BB, Elmquist JK.

J Neurosci. 2010 Nov 3;30(44):14630-4. doi: 10.1523/JNEUROSCI.5412-09.2010.

17.

Distribution and neurochemical characterization of protein kinase C-theta and -delta in the rodent hypothalamus.

Irani BG, Donato J Jr, Olson DP, Lowell BB, Sacktor TC, Reyland ME, Tolson KP, Zinn AR, Ueta Y, Sakata I, Zigman JM, Elias CF, Clegg DJ.

Neuroscience. 2010 Nov 10;170(4):1065-79. doi: 10.1016/j.neuroscience.2010.07.064. Epub 2010 Aug 5.

18.

Postnatal Sim1 deficiency causes hyperphagic obesity and reduced Mc4r and oxytocin expression.

Tolson KP, Gemelli T, Gautron L, Elmquist JK, Zinn AR, Kublaoui BM.

J Neurosci. 2010 Mar 10;30(10):3803-12. doi: 10.1523/JNEUROSCI.5444-09.2010.

19.

An extra X or Y chromosome: contrasting the cognitive and motor phenotypes in childhood in boys with 47,XYY syndrome or 47,XXY Klinefelter syndrome.

Ross JL, Zeger MP, Kushner H, Zinn AR, Roeltgen DP.

Dev Disabil Res Rev. 2009;15(4):309-17. doi: 10.1002/ddrr.85.

20.

Effect of growth hormone therapy on severe short stature and skeletal deformities in a patient with combined Turner syndrome and Langer mesomelic dysplasia.

Shah BC, Moran ES, Zinn AR, Pappas JG.

J Clin Endocrinol Metab. 2009 Dec;94(12):5028-33. doi: 10.1210/jc.2009-0679. Epub 2009 Oct 22.

PMID:
19850687
21.

Computing power of quantitative trait locus association mapping for haploid loci.

Gordon D, Zinn AR.

BMC Bioinformatics. 2009 Aug 23;10:261. doi: 10.1186/1471-2105-10-261.

22.

MODY-like diabetes associated with an apparently balanced translocation: possible involvement of MPP7 gene and cell polarity in the pathogenesis of diabetes.

Bhoj EJ, Romeo S, Baroni MG, Bartov G, Schultz RA, Zinn AR.

Mol Cytogenet. 2009 Feb 13;2:5. doi: 10.1186/1755-8166-2-5.

23.

Cryptic chromosomal abnormalities identified in children with congenital heart disease.

Richards AA, Santos LJ, Nichols HA, Crider BP, Elder FF, Hauser NS, Zinn AR, Garg V.

Pediatr Res. 2008 Oct;64(4):358-63. doi: 10.1203/PDR.0b013e31818095d0.

PMID:
18535492
24.

Oxytocin deficiency mediates hyperphagic obesity of Sim1 haploinsufficient mice.

Kublaoui BM, Gemelli T, Tolson KP, Wang Y, Zinn AR.

Mol Endocrinol. 2008 Jul;22(7):1723-34. doi: 10.1210/me.2008-0067. Epub 2008 May 1.

25.

Effect of ascertainment and genetic features on the phenotype of Klinefelter syndrome.

Zeger MP, Zinn AR, Lahlou N, Ramos P, Kowal K, Samango-Sprouse C, Ross JL.

J Pediatr. 2008 May;152(5):716-22. doi: 10.1016/j.jpeds.2007.10.019. Epub 2007 Dec 21.

PMID:
18410780
26.

Refined mapping of X-linked reticulate pigmentary disorder and sequencing of candidate genes.

Jaeckle Santos LJ, Xing C, Barnes RB, Ades LC, Megarbane A, Vidal C, Xuereb A, Tarpey PS, Smith R, Khazab M, Shoubridge C, Partington M, Futreal A, Stratton MR, Gecz J, Zinn AR.

Hum Genet. 2008 Jun;123(5):469-76. doi: 10.1007/s00439-008-0498-4. Epub 2008 Apr 11.

27.

Cognitive and motor development during childhood in boys with Klinefelter syndrome.

Ross JL, Roeltgen DP, Stefanatos G, Benecke R, Zeger MP, Kushner H, Ramos P, Elder FF, Zinn AR.

Am J Med Genet A. 2008 Mar 15;146A(6):708-19. doi: 10.1002/ajmg.a.32232.

PMID:
18266239
28.

Phenotypic expansion of the supernumerary derivative (22) chromosome syndrome: VACTERL and Hirschsprung's disease.

Prieto JC, Garcia NM, Elder FF, Zinn AR, Baker LA.

J Pediatr Surg. 2007 Nov;42(11):1928-32.

PMID:
18022449
29.

Sequence variation at the human FOXO3 locus: a study of premature ovarian failure and primary amenorrhea.

Gallardo TD, John GB, Bradshaw K, Welt C, Reijo-Pera R, Vogt PH, Touraine P, Bione S, Toniolo D, Nelson LM, Zinn AR, Castrillon DH.

Hum Reprod. 2008 Jan;23(1):216-21. Epub 2007 Oct 23.

30.

EFHC2 SNP rs7055196 is not associated with fear recognition in 45,X Turner syndrome.

Zinn AR, Kushner H, Ross JL.

Am J Med Genet B Neuropsychiatr Genet. 2008 Jun 5;147B(4):507-9.

PMID:
17948898
31.

A Turner syndrome neurocognitive phenotype maps to Xp22.3.

Zinn AR, Roeltgen D, Stefanatos G, Ramos P, Elder FF, Kushner H, Kowal K, Ross JL.

Behav Brain Funct. 2007 May 21;3:24.

32.

DELETION MAPPING OF CRITICAL REGION FOR HYPOSPADIAS, PENOSCROTAL TRANSPOSITION AND IMPERFORATE ANUS ON HUMAN CHROMOSOME 13.

Garcia NM, Allgood J, Santos LJ, Lonergan D, Batanian JR, Henkemeyer M, Bartsch O, Schultz RA, Zinn AR, Baker LA.

J Pediatr Urol. 2006 Aug;2(4):233-242.

33.

Compound heterozygosity of SHOX-encompassing and downstream PAR1 deletions results in Langer mesomelic dysplasia (LMD).

Campos-Barros A, Benito-Sanz S, Ross JL, Zinn AR, Heath KE.

Am J Med Genet A. 2007 May 1;143A(9):933-8.

PMID:
17394206
34.

Dynamic regulation of p53 subnuclear localization and senescence by MORC3.

Takahashi K, Yoshida N, Murakami N, Kawata K, Ishizaki H, Tanaka-Okamoto M, Miyoshi J, Zinn AR, Shime H, Inoue N.

Mol Biol Cell. 2007 May;18(5):1701-9. Epub 2007 Mar 1.

35.

The physical phenotype of girls and women with Turner syndrome is not X-imprinted.

Bondy CA, Matura LA, Wooten N, Troendle J, Zinn AR, Bakalov VK.

Hum Genet. 2007 May;121(3-4):469-74. Epub 2007 Jan 23.

PMID:
17242899
36.

Sim1 haploinsufficiency impairs melanocortin-mediated anorexia and activation of paraventricular nucleus neurons.

Kublaoui BM, Holder JL Jr, Gemelli T, Zinn AR.

Mol Endocrinol. 2006 Oct;20(10):2483-92. Epub 2006 May 25.

PMID:
16728530
37.

SIM1 overexpression partially rescues agouti yellow and diet-induced obesity by normalizing food intake.

Kublaoui BM, Holder JL Jr, Tolson KP, Gemelli T, Zinn AR.

Endocrinology. 2006 Oct;147(10):4542-9. Epub 2006 May 18.

PMID:
16709610
38.

Editorial: MC4R mutations--weight before screening!

Kublaoui BM, Zinn AR.

J Clin Endocrinol Metab. 2006 May;91(5):1671-2. No abstract available.

PMID:
16679511
39.

A second recombination hotspot associated with SHOX deletions.

Zinn AR, Ramos P, Ross JL.

Am J Hum Genet. 2006 Mar;78(3):523-5. No abstract available.

40.

Maternal X chromosome, visceral adiposity, and lipid profile.

Van PL, Bakalov VK, Zinn AR, Bondy CA.

JAMA. 2006 Mar 22;295(12):1373-4. No abstract available.

PMID:
16551706
41.

Increased prevalence of ADHD in Turner syndrome with no evidence of imprinting effects.

Russell HF, Wallis D, Mazzocco MM, Moshang T, Zackai E, Zinn AR, Ross JL, Muenke M.

J Pediatr Psychol. 2006 Oct;31(9):945-55. Epub 2006 Mar 8.

PMID:
16524959
42.

The phenotype of short stature homeobox gene (SHOX) deficiency in childhood: contrasting children with Leri-Weill dyschondrosteosis and Turner syndrome.

Ross JL, Kowal K, Quigley CA, Blum WF, Cutler GB Jr, Crowe B, Hovanes K, Elder FF, Zinn AR.

J Pediatr. 2005 Oct;147(4):499-507.

PMID:
16227037
43.

Androgen receptor CAGn repeat length influences phenotype of 47,XXY (Klinefelter) syndrome.

Zinn AR, Ramos P, Elder FF, Kowal K, Samango-Sprouse C, Ross JL.

J Clin Endocrinol Metab. 2005 Sep;90(9):5041-6. Epub 2005 Jun 14.

PMID:
15956082
44.

X-linked reticulate pigmentary disorder with systemic manifestations: report of a third family and literature review.

Anderson RC, Zinn AR, Kim J, Carder KR.

Pediatr Dermatol. 2005 Mar-Apr;22(2):122-6. Review.

PMID:
15804299
45.

Sim1 gene dosage modulates the homeostatic feeding response to increased dietary fat in mice.

Holder JL Jr, Zhang L, Kublaoui BM, DiLeone RJ, Oz OK, Bair CH, Lee YH, Zinn AR.

Am J Physiol Endocrinol Metab. 2004 Jul;287(1):E105-13. Epub 2004 Feb 24.

46.

Mesomelic and rhizomelic short stature: The phenotype of combined Leri-Weill dyschondrosteosis and achondroplasia or hypochondroplasia.

Ross JL, Bellus G, Scott CI Jr, Abboudi J, Grigelioniene G, Zinn AR.

Am J Med Genet A. 2003 Jan 1;116A(1):61-5.

PMID:
12476453
47.

Most X;autosome translocations associated with premature ovarian failure do not interrupt X-linked genes.

Prueitt RL, Chen H, Barnes RI, Zinn AR.

Cytogenet Genome Res. 2002;97(1-2):32-8.

PMID:
12438735
48.

Complete SHOX deficiency causes Langer mesomelic dysplasia.

Zinn AR, Wei F, Zhang L, Elder FF, Scott CI Jr, Marttila P, Ross JL.

Am J Med Genet. 2002 Jun 15;110(2):158-63.

PMID:
12116254
49.

Phenotypes Associated with SHOX Deficiency.

Ross JL, Scott C Jr, Marttila P, Kowal K, Nass A, Papenhausen P, Abboudi J, Osterman L, Kushner H, Carter P, Ezaki M, Elder F, Wei F, Chen H, Zinn AR.

J Clin Endocrinol Metab. 2001 Dec;86(12):5674-80.

PMID:
11739418
50.

A man who inherited his SRY gene and Leri-Weill dyschondrosteosis from his mother and neurofibromatosis type 1 from his father.

Wei F, Cheng S, Badie N, Elder F, Scott C Jr, Nicholson L, Ross JL, Zinn AR.

Am J Med Genet. 2001 Sep 1;102(4):353-8.

PMID:
11503163

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