Search | VHL CLAP/WR-PAHO/WHO

1.

Investigation of a pervasive immune, cardiac, and behavioral phenotype in Beckwith-Wiedemann syndrome: A case report.

McElroy, Timothy D; Duffy, Kelly A; Hathaway, Evan R; Byrne, Mallory E; Kalish, Jennifer M.

Am J Med Genet A ; 191(4): 1107-1110, 2023 04.

Article in English | MEDLINE | ID: mdl-36595472

2.

Familial Beckwith-Wiedemann syndrome in a multigenerational family: Forty years of careful phenotyping.

Best, Lyle G; Duffy, Kelly A; George, Andrew M; Ganguly, Arupa; Kalish, Jennifer M.

Am J Med Genet A ; 191(2): 348-356, 2023 02.

Article in English | MEDLINE | ID: mdl-36322462

3.

Improved molecular detection of mosaicism in Beckwith-Wiedemann Syndrome.

Baker, Samuel W; Duffy, Kelly A; Richards-Yutz, Jennifer; Deardorff, Matthew A; Kalish, Jennifer M; Ganguly, Arupa.

J Med Genet ; 58(3): 178-184, 2021 03.

Article in English | MEDLINE | ID: mdl-32430359

4.

Children with attention-deficit/hyperactivity disorder spend more time in hyperconnected network states and less time in segregated network states as revealed by dynamic connectivity analysis.

Shappell, Heather M; Duffy, Kelly A; Rosch, Keri S; Pekar, James J; Mostofsky, Stewart H; Lindquist, Martin A; Cohen, Jessica R.

Neuroimage ; 229: 117753, 2021 04 01.

Article in English | MEDLINE | ID: mdl-33454408

5.

The Prevalence of Difficult Airway in Children With Beckwith-Wiedemann Syndrome: A Retrospective Cohort Study.

Sequera-Ramos, Luis; Duffy, Kelly A; Fiadjoe, John E; Garcia-Marcinkiewicz, Annery G; Zhang, Bingqing; Perate, Alison; Kalish, Jennifer M.

Anesth Analg ; 133(6): 1559-1567, 2021 12 01.

Article in English | MEDLINE | ID: mdl-33886515

6.

11p15.5 epimutations in children with Wilms tumor and hepatoblastoma detected in peripheral blood.

Fiala, Elise M; Ortiz, Michael V; Kennedy, Jennifer A; Glodzik, Dominik; Fleischut, Megan Harlan; Duffy, Kelly A; Hathaway, Evan R; Heaton, Todd; Gerstle, Justin T; Steinherz, Peter; Shukla, Neerav; McNeer, Nicole; Tkachuk, Kaitlyn; Bouvier, Nancy; Cadoo, Karen; Carlo, Maria I; Latham, Alicia; Dubard Gault, Marianne; Joseph, Vijai; Kemel, Yelena; Kentsis, Alex; Stadler, Zsofia; La Quaglia, Michael; Papaemmanuil, Elli; Friedman, Danielle; Ganguly, Arupa; Kung, Andrew; Offit, Kenneth; Kalish, Jennifer M; Walsh, Michael F.

Cancer ; 126(13): 3114-3121, 2020 07 01.

Article in English | MEDLINE | ID: mdl-32320050

7.

Characterization of the Beckwith-Wiedemann spectrum: Diagnosis and management.

Duffy, Kelly A; Cielo, Christopher M; Cohen, Jennifer L; Gonzalez-Gandolfi, Christina X; Griff, Jessica R; Hathaway, Evan R; Kupa, Jonida; Taylor, Jesse A; Wang, Kathleen H; Ganguly, Arupa; Deardorff, Matthew A; Kalish, Jennifer M.

Am J Med Genet C Semin Med Genet ; 181(4): 693-708, 2019 12.

Article in English | MEDLINE | ID: mdl-31469230

8.

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

Sheppard, Sarah E; Lalonde, Emilie; Adzick, N Scott; Beck, Anita E; Bhatti, Tricia; De Leon, Diva D; Duffy, Kelly A; Ganguly, Arupa; Hathaway, Evan; Ji, Jianling; Linn, Rebecca; Lord, Katherine; Randolph, Linda M; Sajorda, Brian; States, Lisa; Conlin, Laura K; Kalish, Jennifer M.

Genet Med ; 21(11): 2644-2649, 2019 11.

Article in English | MEDLINE | ID: mdl-31147633

9.

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

Duffy, Kelly A; Cohen, Jennifer L; Elci, Okan U; Kalish, Jennifer M.

J Pediatr ; 212: 195-200.e2, 2019 09.

Article in English | MEDLINE | ID: mdl-31235384

10.

Beckwith-Wiedemann syndrome in diverse populations.

Duffy, Kelly A; Sajorda, Brian J; Yu, Alice C; Hathaway, Evan R; Grand, Katheryn L; Deardorff, Matthew A; Kalish, Jennifer M.

Am J Med Genet A ; 179(4): 525-533, 2019 04.

Article in English | MEDLINE | ID: mdl-30719840

11.

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

Cohen, Jennifer L; Duffy, Kelly A; Sajorda, Brian J; Hathaway, Evan R; Gonzalez-Gandolfi, Christina X; Richards-Yutz, Jennifer; Gunter, Andrew T; Ganguly, Arupa; Kaplan, Julie; Deardorff, Matthew A; Kalish, Jennifer M.

Am J Med Genet A ; 179(7): 1139-1147, 2019 07.

Article in English | MEDLINE | ID: mdl-31067005

12.

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

Mussa, Alessandro; Duffy, Kelly A; Carli, Diana; Ferrero, Giovanni Battista; Kalish, Jennifer M.

Pediatr Blood Cancer ; 66(1): e27492, 2019 01.

Article in English | MEDLINE | ID: mdl-30270492

13.

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

Fix, William C; Cornejo, Christine; Duffy, Kelly A; Hathaway, Evan R; Kalish, Jennifer M; Rubin, Adam I; Treat, James R.

Pediatr Dermatol ; 36(3): 388-390, 2019 May.

Article in English | MEDLINE | ID: mdl-30773672

14.

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

MacFarland, Suzanne P; Duffy, Kelly A; Bhatti, Tricia R; Bagatell, Rochelle; Balamuth, Naomi J; Brodeur, Garrett M; Ganguly, Arupa; Mattei, Peter A; Surrey, Lea F; Balis, Frank M; Kalish, Jennifer M.

Pediatr Blood Cancer ; 65(10): e27296, 2018 10.

Article in English | MEDLINE | ID: mdl-29932284

15.

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

Cielo, Christopher M; Duffy, Kelly A; Vyas, Aesha; Taylor, Jesse A; Kalish, Jennifer M.

Paediatr Respir Rev ; 25: 58-63, 2018 Jan.

Article in English | MEDLINE | ID: mdl-28366681

16.

Tumor Screening in Beckwith-Wiedemann Syndrome: Parental Perspectives.

Duffy, Kelly A; Grand, Katheryn L; Zelley, Kristin; Kalish, Jennifer M.

J Genet Couns ; 27(4): 844-853, 2018 08.

Article in English | MEDLINE | ID: mdl-29204812

17.

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

Duffy, Kelly A; Deardorff, Matthew A; Kalish, Jennifer M.

Am J Med Genet A ; 173(3): 581-584, 2017 Mar.

Article in English | MEDLINE | ID: mdl-28160403

18.

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

MacFarland, Suzanne P; Mostoufi-Moab, Sogol; Zelley, Kristin; Mattei, Peter A; States, Lisa J; Bhatti, Tricia R; Duffy, Kelly A; Brodeur, Garrett M; Kalish, Jennifer M.

Pediatr Blood Cancer ; 64(8)2017 Aug.

Article in English | MEDLINE | ID: mdl-28066990

19.

Understanding Syndromic Leg Length Discrepancy.

Duffy, Kelly A; Davidson, Richard S; Kalish, Jennifer M.

J Pediatr ; 234: 16-18, 2021 07.

Article in English | MEDLINE | ID: mdl-33571479

20.

Reply.

Duffy, Kelly A; Kalish, Jennifer M.

J Pediatr ; 216: 249-250, 2020 01.

Article in English | MEDLINE | ID: mdl-31610931

VHL CLAP/WR-PAHO/WHO

Latin-American Center for Perinatology, Woman and Reproductive Health

Config filters

Your selection (0)

Export format:

Export: