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How do young people with a hereditary cancer predisposition syndrome understand and experience cancer survivorship? "With Li‐Fraumeni syndrome, it's just an intermission".
Published in:
Psycho-Oncology, 2023, v. 32, n. 3, p. 375, doi. 10.1002/pon.6080
By:
- Werner‐Lin, Allison;
- Forbes Shepherd, Rowan;
- Rising, Camella J.;
- Thompson, Ashley S.;
- Huelsnitz, Chloe;
- Wilsnack, Catherine;
- Boyd, Patrick;
- Sleight, Alix G.;
- Hutson, Sadie;
- Khincha, Payal P.
Publication type:
Article
Family Health Leaders: Lessons on Living with Li‐Fraumeni Syndrome across Generations.
Published in:
Family Process, 2020, v. 59, n. 4, p. 1648, doi. 10.1111/famp.12497
By:
- Pantaleao, Ashley;
- Young, Jennifer L.;
- Epstein, Norman B.;
- Carlson, Mae;
- Bremer, Renée C.;
- Khincha, Payal P.;
- Peters, June A.;
- Greene, Mark H.;
- Roy, Kevin;
- Achatz, Maria Isabel;
- Savage, Sharon A.;
- Werner‐Lin, Allison
Publication type:
Article
Correlation of Leukocyte Telomere Length Measurement Methods in Patients with Dyskeratosis Congenita and in Their Unaffected Relatives.
Published in:
International Journal of Molecular Sciences, 2017, v. 18, n. 8, p. 1765, doi. 10.3390/ijms18081765
By:
- Khincha, Payal P.;
- Dagnall, Casey L.;
- Hicks, Belynda;
- Jones, Kristine;
- Aviv, Abraham;
- Kimura, Masayuki;
- Katki, Hormuzd;
- Aubert, Geraldine;
- Giri, Neelam;
- Alter, Blanche P.;
- Savage, Sharon A.;
- Gadalla, Shahinaz M.
Publication type:
Article
Uptake and timing of bilateral and contralateral risk-reducing mastectomy in women with Li–Fraumeni syndrome.
Published in:
Breast Cancer Research & Treatment, 2022, v. 191, n. 1, p. 159, doi. 10.1007/s10549-021-06410-5
By:
- Siegel, Atara;
- Bremer, Renee C.;
- Klein, William M. P.;
- Savage, Sharon A.;
- Loud, Jennifer T.;
- Khincha, Payal P.
Publication type:
Article
Cover Image, Volume 176A, Number 6, June 2018.
Published in:
American Journal of Medical Genetics. Part A, 2018, v. 176, n. 6, p. i, doi. 10.1002/ajmg.a.38848
By:
- Ungar, Rachel A.;
- Giri, Neelam;
- Pao, Maryland;
- Khincha, Payal P.;
- Zhou, Weiyin;
- Alter, Blanche P.;
- Savage, Sharon A.
Publication type:
Article
Complex phenotype of dyskeratosis congenita and mood dysregulation with novel homozygous RTEL1 and TPH1 variants.
Published in:
American Journal of Medical Genetics. Part A, 2018, v. 176, n. 6, p. 1432, doi. 10.1002/ajmg.a.38706
By:
- Ungar, Rachel A.;
- Giri, Neelam;
- Pao, Maryland;
- Khincha, Payal P.;
- Zhou, Weiyin;
- Alter, Blanche P.;
- Savage, Sharon A.
Publication type:
Article
Response to androgen therapy in patients with dyskeratosis congenita.
Published in:
British Journal of Haematology, 2014, v. 165, n. 3, p. 349, doi. 10.1111/bjh.12748
By:
- Khincha, Payal P.;
- Wentzensen, Ingrid M.;
- Giri, Neelam;
- Alter, Blanche P.;
- Savage, Sharon A.
Publication type:
Article
Pilot Study Assessing Tolerability and Metabolic Effects of Metformin in Patients With Li-Fraumeni Syndrome.
Published in:
JNCI Cancer Spectrum, 2020, v. 4, n. 6, p. 1, doi. 10.1093/jncics/pkaa063
By:
- Walcott, Farzana L;
- Wang, Ping-Yuan;
- Bryla, Christine M;
- Huffstutler, Rebecca D;
- Singh, Neha;
- Pollak, Michael N;
- Khincha, Payal P;
- Savage, Sharon A;
- Mai, Phuong L;
- Dodd, Kevin W;
- Hwang, Paul M;
- Fojo, Antonio T;
- Annunziata, Christina M
Publication type:
Article
The limitations of qPCR telomere length measurement in diagnosing dyskeratosis congenita.
Published in:
Molecular Genetics & Genomic Medicine, 2016, v. 4, n. 4, p. 475, doi. 10.1002/mgg3.220
By:
- Gadalla, Shahinaz M.;
- Khincha, Payal P.;
- Katki, Hormuzd A.;
- Giri, Neelam;
- Wong, Jason Y. Y.;
- Spellman, Stephen;
- Yanovski, Jack A.;
- Han, Joan C.;
- De Vivo, Immaculata;
- Alter, Blanche P.;
- Savage, Sharon A.
Publication type:
Article
Pilot study of the prevalence of autoimmune disorders in Li-Fraumeni syndrome.
Published in:
Familial Cancer, 2023, v. 22, n. 3, p. 319, doi. 10.1007/s10689-022-00326-9
By:
- Obregón, Ixtaccihuatl H.;
- de Andrade, Kelvin C.;
- Bremer, Renee C.;
- Khincha, Payal P.;
- Savage, Sharon A.
Publication type:
Article
Utility of interim blood tests for cancer screening in Li-Fraumeni syndrome.
Published in:
Familial Cancer, 2022, v. 21, n. 3, p. 333, doi. 10.1007/s10689-021-00265-x
By:
- Oba, Leatrisse;
- Best, Ana F.;
- Mai, Phuong L.;
- Achatz, Maria Isabel;
- Albert, Paul S.;
- Savage, Sharon A.;
- Khincha, Payal P.
Publication type:
Article
Waiting and "weighted down": the challenge of anticipatory loss for individuals and families with Li-Fraumeni Syndrome.
Published in:
Familial Cancer, 2020, v. 19, n. 3, p. 259, doi. 10.1007/s10689-020-00173-6
By:
- Werner-Lin, Allison;
- Young, Jennifer L.;
- Wilsnack, Catherine;
- Merrill, Shana L.;
- Groner, Victoria;
- Greene, Mark H.;
- Khincha, Payal P.
Publication type:
Article
Investigation of chromosome X inactivation and clinical phenotypes in female carriers of DKC1 mutations.
Published in:
American Journal of Hematology, 2016, v. 91, n. 12, p. 1215, doi. 10.1002/ajh.24545
By:
- Xu, Jialin;
- Khincha, Payal P.;
- Giri, Neelam;
- Alter, Blanche P.;
- Savage, Sharon A.;
- Wong, Judy M.Y.
Publication type:
Article
Risks of first and subsequent cancers among TP53 mutation carriers in the National Cancer Institute Li-Fraumeni syndrome cohort.
Published in:
2016
By:
- Mai, Phuong L.;
- Best, Ana F.;
- Peters, June A.;
- DeCastro, Rosamma M.;
- Khincha, Payal P.;
- Loud, Jennifer T.;
- Bremer, Renée C.;
- Rosenberg, Philip S.;
- Savage, Sharon A.;
- Bremer, Renée C
Publication type:
journal article
Expansion of germline RPS20 mutation phenotype to include Diamond–Blackfan anemia.
Published in:
Human Mutation, 2020, v. 41, n. 11, p. 1918, doi. 10.1002/humu.24092
By:
- Bhar, Saleh;
- Zhou, Fujun;
- Reineke, Lucas C.;
- Morris, Danna K.;
- Khincha, Payal P.;
- Giri, Neelam;
- Mirabello, Lisa;
- Bergstrom, Katie;
- Lemon, Laramie D.;
- Williams, Christopher L.;
- Toh, Yukimatsu;
- Elghetany, M. Tarek;
- Lloyd, Richard E.;
- Alter, Blanche P.;
- Savage, Sharon A.;
- Bertuch, Alison A.
Publication type:
Article
Suggested application of HER2+ breast tumor phenotype for germline TP53 variant classification within ACMG/AMP guidelines.
Published in:
Human Mutation, 2020, v. 41, n. 9, p. 1555, doi. 10.1002/humu.24060
By:
- Fortuno, Cristina;
- Mester, Jessica;
- Pesaran, Tina;
- Weitzel, Jeffrey N.;
- Dolinsky, Jill;
- Yussuf, Amal;
- McGoldrick, Kelly;
- Garber, Judy E.;
- Savage, Sharon A.;
- Khincha, Payal P.;
- Gareth Evans, D.;
- Achatz, Maria Isabel;
- Nichols, Kim E.;
- Maxwell, Kara N.;
- Schiffman, Joshua D.;
- Sandoval, Renata;
- James, Paul A.;
- Spurdle, Amanda B.
Publication type:
Article
Response to: Concern regarding classification of germlineTP53 variants as likely pathogenic.
Published in:
Human Mutation, 2019, v. 40, n. 6, p. 832, doi. 10.1002/humu.23749
By:
- Andrade, Kelvin C.;
- Frone, Megan N.;
- Wegman‐Ostrosky, Talia;
- Khincha, Payal P.;
- Kim, Jung;
- Amadou, Amina;
- Santiago, Karina M.;
- Fortes, Fernanda P.;
- Lemonnier, Nathanaël;
- Mirabello, Lisa;
- Stewart, Douglas R.;
- Hainaut, Pierre;
- Kowalski, Luiz P.;
- Savage, Sharon A.;
- Achatz, Maria I.
Publication type:
Article
Variable population prevalence estimates of germline TP53 variants: A gnomAD‐based analysis.
Published in:
Human Mutation, 2019, v. 40, n. 1, p. 97, doi. 10.1002/humu.23673
By:
- Andrade, Kelvin C.;
- Frone, Megan N.;
- Wegman‐Ostrosky, Talia;
- Khincha, Payal P.;
- Kim, Jung;
- Amadou, Amina;
- Santiago, Karina M.;
- Fortes, Fernanda P.;
- Lemonnier, Nathanaël;
- Mirabello, Lisa;
- Stewart, Douglas R.;
- Hainaut, Pierre;
- Kowalski, Luiz P.;
- Savage, Sharon A.;
- Achatz, Maria I.
Publication type:
Article
Pathogenic germline IKZF1 variant alters hematopoietic gene expression profiles.
Published in:
Cold Spring Harbor Molecular Case Studies, 2021, v. 7, n. 4, p. 1, doi. 10.1101/mcs.a006015
By:
- Brodie, Seth A.;
- Khincha, Payal P.;
- Giri, Neelam;
- Bouk, Aaron J.;
- Steinberg, Mia;
- Dai, Jieqiong;
- Jessop, Lea;
- Donovan, Frank X.;
- Chandrasekharappa, Settara C.;
- de Andrade, Kelvin C.;
- Maric, Irina;
- Ellis, Steven R.;
- Mirabello, Lisa;
- Alter, Blanche P.;
- Savage, Sharon A.
Publication type:
Article
Diet and physical activity behaviors: how are they related to illness perceptions, coping, and health-related quality of life in young people with hereditary cancer syndromes?
Published in:
Journal of Behavioral Medicine, 2024, v. 47, n. 4, p. 707, doi. 10.1007/s10865-024-00489-z
By:
- Rising, Camella J.;
- Huelsnitz, Chloe O.;
- Shepherd, Rowan Forbes;
- Klein, William M. P.;
- Sleight, Alix G.;
- Wilsnack, Catherine;
- Boyd, Patrick;
- Feldman, Alexandra E.;
- Khincha, Payal P.;
- Werner-Lin, Allison
Publication type:
Article
When the somatic genome informs the germline: the example of TP53.
Published in:
JNCI: Journal of the National Cancer Institute, 2024, v. 116, n. 8, p. 1190, doi. 10.1093/jnci/djae126
By:
- Khincha, Payal P;
- Savage, Sharon A
Publication type:
Article
Family Identity and Roles in the Context of Li-Fraumeni Syndrome: "No One's Like Us Mutants".
Published in:
Health & Social Work, 2021, v. 46, n. 4, p. 299, doi. 10.1093/hsw/hlab032
By:
- Wilsnack, Catherine;
- Young, Jennifer L.;
- Merrill, Shana L.;
- Groner, Victoria;
- Loud, Jennifer T.;
- Bremer, Renee C.;
- Greene, Mark H.;
- Khincha, Payal P.;
- Werner-Lin, Allison
Publication type:
Article
Effect of pre-analytic variables on the reproducibility of qPCR relative telomere length measurement.
Published in:
PLoS ONE, 2017, v. 12, n. 9, p. 1, doi. 10.1371/journal.pone.0184098
By:
- Dagnall, Casey L.;
- Hicks, Belynda;
- Teshome, Kedest;
- Hutchinson, Amy A.;
- Gadalla, Shahinaz M.;
- Khincha, Payal P.;
- Yeager, Meredith;
- Savage, Sharon A.
Publication type:
Article

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