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Items: 37

1.

Development of the Serum α-Fetoprotein Reference Range in Patients with Beckwith-Wiedemann Spectrum.

Duffy KA, Cohen JL, Elci OU, Kalish JM.

J Pediatr. 2019 Jun 21. pii: S0022-3476(19)30668-7. doi: 10.1016/j.jpeds.2019.05.051. [Epub ahead of print]

PMID:
31235384
2.

Androgenetic chimerism as an etiology for Beckwith-Wiedemann syndrome: diagnosis and management.

Sheppard SE, Lalonde E, Adzick NS, Beck AE, Bhatti T, De Leon DD, Duffy KA, Ganguly A, Hathaway E, Ji J, Linn R, Lord K, Randolph LM, Sajorda B, States L, Conlin LK, Kalish JM.

Genet Med. 2019 May 31. doi: 10.1038/s41436-019-0551-9. [Epub ahead of print]

PMID:
31147633
3.

Altered microRNA expression profiles in large offspring syndrome and Beckwith-Wiedemann syndrome.

Li Y, Hagen DE, Ji T, Bakhtiarizadeh MR, Frederic WM, Traxler EM, Kalish JM, Rivera RM.

Epigenetics. 2019 May 30:1-27. doi: 10.1080/15592294.2019.1615357. [Epub ahead of print]

PMID:
31144574
4.

Diagnosis and management of the phenotypic spectrum of twins with Beckwith-Wiedemann syndrome.

Cohen JL, Duffy KA, Sajorda BJ, Hathaway ER, Gonzalez-Gandolfi CX, Richards-Yutz J, Gunter AT, Ganguly A, Kaplan J, Deardorff MA, Kalish JM.

Am J Med Genet A. 2019 Jul;179(7):1139-1147. doi: 10.1002/ajmg.a.61164. Epub 2019 May 8.

PMID:
31067005
5.

Obstructive Sleep Apnea in Children With Beckwith-Wiedemann Syndrome.

Cielo CM, Duffy KA, Taylor JA, Marcus CL, Kalish JM.

J Clin Sleep Med. 2019 Mar 15;15(3):375-381. doi: 10.5664/jcsm.7656.

PMID:
30853040
6.

Pediatric chondrodermatitis nodularis helicis (CNH) in a child with Beckwith-Wiedemann syndrome (BWS).

Fix WC, Cornejo C, Duffy KA, Hathaway ER, Kalish JM, Rubin AI, Treat JR.

Pediatr Dermatol. 2019 May;36(3):388-390. doi: 10.1111/pde.13765. Epub 2019 Feb 17.

PMID:
30773672
7.

Molecular diagnosis of somatic overgrowth conditions: A single-center experience.

Lalonde E, Ebrahimzadeh J, Rafferty K, Richards-Yutz J, Grant R, Toorens E, Marie Rosado J, Schindewolf E, Ganguly T, Kalish JM, Deardorff MA, Ganguly A.

Mol Genet Genomic Med. 2019 Mar;7(3):e536. doi: 10.1002/mgg3.536. Epub 2019 Feb 13.

8.

Hyperinsulinemic hypoglycemia in seven patients with de novo NSD1 mutations.

Grand K, Gonzalez-Gandolfi C, Ackermann AM, Aljeaid D, Bedoukian E, Bird LM, De Leon DD, Diaz J, Hopkin RJ, Kadakia SP, Keena B, Klein KO, Krantz I, Leon E, Lord K, McDougall C, Medne L, Skraban CM, Stanley CA, Tarpinian J, Zackai E, Deardorff MA, Kalish JM.

Am J Med Genet A. 2019 Apr;179(4):542-551. doi: 10.1002/ajmg.a.61062. Epub 2019 Feb 4.

PMID:
30719864
9.

Beckwith-Wiedemann syndrome in diverse populations.

Duffy KA, Sajorda BJ, Yu AC, Hathaway ER, Grand KL, Deardorff MA, Kalish JM.

Am J Med Genet A. 2019 Apr;179(4):525-533. doi: 10.1002/ajmg.a.61053. Epub 2019 Feb 4.

PMID:
30719840
10.

Longitudinal Monitoring of Alpha-Fetoprotein by Dried Blood Spot for Hepatoblastoma Screening in Beckwith⁻Wiedemann Syndrome.

Mussa A, Ciuffreda VP, Sauro P, Pagliardini V, Pagliardini S, Carli D, Kalish JM, Fagioli F, Pavanello E, Ferrero GB.

Cancers (Basel). 2019 Jan 14;11(1). pii: E86. doi: 10.3390/cancers11010086.

11.

Allele-specific RNA imaging shows that allelic imbalances can arise in tissues through transcriptional bursting.

Symmons O, Chang M, Mellis IA, Kalish JM, Park J, Suszták K, Bartolomei MS, Raj A.

PLoS Genet. 2019 Jan 9;15(1):e1007874. doi: 10.1371/journal.pgen.1007874. eCollection 2019 Jan.

12.

Simpson-Golabi-Behmel Syndrome Type 1.

Sajorda BJ, Gonzalez-Gandolfi CX, Hathaway ER, Kalish JM.

In: Adam MP, Ardinger HH, Pagon RA, Wallace SE, Bean LJH, Stephens K, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2019.
2006 Dec 19 [updated 2018 Nov 29].

13.

Defining an optimal time window to screen for hepatoblastoma in children with Beckwith-Wiedemann syndrome.

Mussa A, Duffy KA, Carli D, Ferrero GB, Kalish JM.

Pediatr Blood Cancer. 2019 Jan;66(1):e27492. doi: 10.1002/pbc.27492. Epub 2018 Sep 30.

PMID:
30270492
14.

Nonreentrant atrial tachycardia occurs independently of hypertrophic cardiomyopathy in RASopathy patients.

Levin MD, Saitta SC, Gripp KW, Wenger TL, Ganesh J, Kalish JM, Epstein MR, Smith R, Czosek RJ, Ware SM, Goldenberg P, Myers A, Chatfield KC, Gillespie MJ, Zackai EH, Lin AE.

Am J Med Genet A. 2018 Aug;176(8):1711-1722. doi: 10.1002/ajmg.a.38854. Epub 2018 Jul 28.

15.

Diagnosis of Beckwith-Wiedemann syndrome in children presenting with Wilms tumor.

MacFarland SP, Duffy KA, Bhatti TR, Bagatell R, Balamuth NJ, Brodeur GM, Ganguly A, Mattei PA, Surrey LF, Balis FM, Kalish JM.

Pediatr Blood Cancer. 2018 Oct;65(10):e27296. doi: 10.1002/pbc.27296. Epub 2018 Jun 22.

PMID:
29932284
16.

Beckwith-Wiedemann Syndrome: Partnership in the Diagnostic Journey of a Rare Disorder.

Davlin AS, Clarkin CM, Kalish JM.

Pediatrics. 2018 Mar;141(3). pii: e20170475. doi: 10.1542/peds.2017-0475. Epub 2018 Feb 2. No abstract available.

17.

Expert consensus document: Clinical and molecular diagnosis, screening and management of Beckwith-Wiedemann syndrome: an international consensus statement.

Brioude F, Kalish JM, Mussa A, Foster AC, Bliek J, Ferrero GB, Boonen SE, Cole T, Baker R, Bertoletti M, Cocchi G, Coze C, De Pellegrin M, Hussain K, Ibrahim A, Kilby MD, Krajewska-Walasek M, Kratz CP, Ladusans EJ, Lapunzina P, Le Bouc Y, Maas SM, Macdonald F, Õunap K, Peruzzi L, Rossignol S, Russo S, Shipster C, Skórka A, Tatton-Brown K, Tenorio J, Tortora C, Grønskov K, Netchine I, Hennekam RC, Prawitt D, Tümer Z, Eggermann T, Mackay DJG, Riccio A, Maher ER.

Nat Rev Endocrinol. 2018 Apr;14(4):229-249. doi: 10.1038/nrendo.2017.166. Epub 2018 Jan 29. Review.

18.

Tumor Screening in Beckwith-Wiedemann Syndrome: Parental Perspectives.

Duffy KA, Grand KL, Zelley K, Kalish JM.

J Genet Couns. 2018 Aug;27(4):844-853. doi: 10.1007/s10897-017-0182-8. Epub 2017 Dec 4.

PMID:
29204812
19.

Surveillance Recommendations for Children with Overgrowth Syndromes and Predisposition to Wilms Tumors and Hepatoblastoma.

Kalish JM, Doros L, Helman LJ, Hennekam RC, Kuiper RP, Maas SM, Maher ER, Nichols KE, Plon SE, Porter CC, Rednam S, Schultz KAP, States LJ, Tomlinson GE, Zelley K, Druley TE.

Clin Cancer Res. 2017 Jul 1;23(13):e115-e122. doi: 10.1158/1078-0432.CCR-17-0710. Review.

20.

Recommendations for Cancer Surveillance in Individuals with RASopathies and Other Rare Genetic Conditions with Increased Cancer Risk.

Villani A, Greer MC, Kalish JM, Nakagawara A, Nathanson KL, Pajtler KW, Pfister SM, Walsh MF, Wasserman JD, Zelley K, Kratz CP.

Clin Cancer Res. 2017 Jun 15;23(12):e83-e90. doi: 10.1158/1078-0432.CCR-17-0631. Review.

21.

Nomenclature and definition in asymmetric regional body overgrowth.

Kalish JM, Biesecker LG, Brioude F, Deardorff MA, Di Cesare-Merlone A, Druley T, Ferrero GB, Lapunzina P, Larizza L, Maas S, Macchiaiolo M, Maher ER, Maitz S, Martinez-Agosto JA, Mussa A, Robinson P, Russo S, Selicorni A, Hennekam RC.

Am J Med Genet A. 2017 Jul;173(7):1735-1738. doi: 10.1002/ajmg.a.38266. Epub 2017 May 5.

22.

Obstructive sleep apnoea and the role of tongue reduction surgery in children with Beckwith-Wiedemann syndrome.

Cielo CM, Duffy KA, Vyas A, Taylor JA, Kalish JM.

Paediatr Respir Rev. 2018 Jan;25:58-63. doi: 10.1016/j.prrv.2017.02.003. Epub 2017 Feb 24. Review.

23.

The utility of alpha-fetoprotein screening in Beckwith-Wiedemann syndrome.

Duffy KA, Deardorff MA, Kalish JM.

Am J Med Genet A. 2017 Mar;173(3):581-584. doi: 10.1002/ajmg.a.38068. Epub 2017 Feb 4.

24.

Management of adrenal masses in patients with Beckwith-Wiedemann syndrome.

MacFarland SP, Mostoufi-Moab S, Zelley K, Mattei PA, States LJ, Bhatti TR, Duffy KA, Brodeur GM, Kalish JM.

Pediatr Blood Cancer. 2017 Aug;64(8). doi: 10.1002/pbc.26432. Epub 2017 Jan 9. Review.

25.

An Atypical Presentation of a Male with Oral-Facial-Digital Syndrome Type 1 Related Ciliopathy.

Sharma S, Kalish JM, Goldberg EM, Reynoso FJ, Pradhan M.

Case Rep Nephrol. 2016;2016:3181676. doi: 10.1155/2016/3181676. Epub 2016 Aug 29.

26.

Overgrowth Syndromes.

Edmondson AC, Kalish JM.

J Pediatr Genet. 2015 Sep;4(3):136-43. doi: 10.1055/s-0035-1564440. Epub 2015 Sep 25. Review.

27.

Urological Findings in Beckwith-Wiedemann Syndrome With Chromosomal Duplications of 11p15.5: Evaluation and Management.

Tong CC, Duffy KA, Chu DI, Weiss DA, Srinivasan AK, Canning DA, Kalish JM.

Urology. 2017 Feb;100:224-227. doi: 10.1016/j.urology.2016.08.037. Epub 2016 Sep 7.

28.

Tumor screening in Beckwith-Wiedemann syndrome-To screen or not to screen?

Kalish JM, Deardorff MA.

Am J Med Genet A. 2016 Sep;170(9):2261-4. doi: 10.1002/ajmg.a.37881.

29.

Visualizing allele-specific expression in single cells reveals epigenetic mosaicism in an H19 loss-of-imprinting mutant.

Ginart P, Kalish JM, Jiang CL, Yu AC, Bartolomei MS, Raj A.

Genes Dev. 2016 Mar 1;30(5):567-78. doi: 10.1101/gad.275958.115.

30.

Congenital hyperinsulinism in children with paternal 11p uniparental isodisomy and Beckwith-Wiedemann syndrome.

Kalish JM, Boodhansingh KE, Bhatti TR, Ganguly A, Conlin LK, Becker SA, Givler S, Mighion L, Palladino AA, Adzick NS, De León DD, Stanley CA, Deardorff MA.

J Med Genet. 2016 Jan;53(1):53-61. doi: 10.1136/jmedgenet-2015-103394. Epub 2015 Nov 6.

31.

Epigenetics and imprinting in human disease.

Kalish JM, Jiang C, Bartolomei MS.

Int J Dev Biol. 2014;58(2-4):291-8. doi: 10.1387/ijdb.140077mb. Review.

32.

Clinical features of three girls with mosaic genome-wide paternal uniparental isodisomy.

Kalish JM, Conlin LK, Bhatti TR, Dubbs HA, Harris MC, Izumi K, Mostoufi-Moab S, Mulchandani S, Saitta S, States LJ, Swarr DT, Wilkens AB, Zackai EH, Zelley K, Bartolomei MS, Nichols KE, Palladino AA, Spinner NB, Deardorff MA.

Am J Med Genet A. 2013 Aug;161A(8):1929-39. doi: 10.1002/ajmg.a.36045. Epub 2013 Jun 26.

33.

Bilateral pheochromocytomas, hemihyperplasia, and subtle somatic mosaicism: the importance of detecting low-level uniparental disomy.

Kalish JM, Conlin LK, Mostoufi-Moab S, Wilkens AB, Mulchandani S, Zelley K, Kowalski M, Bhatti TR, Russo P, Mattei P, Mackenzie WG, LiVolsi V, Nichols KE, Biegel JA, Spinner NB, Deardorff MA.

Am J Med Genet A. 2013 May;161A(5):993-1001. doi: 10.1002/ajmg.a.35831. Epub 2013 Mar 26.

34.

Triplex-stimulated intermolecular recombination at a single-copy genomic target.

Knauert MP, Kalish JM, Hegan DC, Glazer PM.

Mol Ther. 2006 Sep;14(3):392-400. Epub 2006 May 30.

35.

Targeted genome modification via triple helix formation.

Kalish JM, Glazer PM.

Ann N Y Acad Sci. 2005 Nov;1058:151-61. Review.

PMID:
16394134
36.

Triplex-induced recombination and repair in the pyrimidine motif.

Kalish JM, Seidman MM, Weeks DL, Glazer PM.

Nucleic Acids Res. 2005 Jun 16;33(11):3492-502. Print 2005.

37.

Fish otolith chemistry.

Kalish JM.

Science. 1993 Apr 16;260(5106):279. No abstract available.

PMID:
17838231

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