Works by Introne, Wendy J.

Results: 20

Assessment of Thyroid Function in Patients With Alkaptonuria.

Published in:

JAMA Network Open, 2020, p. e201357, doi. 10.1001/jamanetworkopen.2020.1357

By:

Avadhanula, Shirisha;
Introne, Wendy J.;
Auh, Sungyoung;
Soldin, Steven J.;
Stolze, Brian;
Regier, Debra;
Ciccone, Carla;
Hannah-Shmouni, Fady;
Filie, Armando C.;
Burman, Kenneth D.;
Klubo-Gwiezdzinska, Joanna

Publication type:

Article

Genetic variants associated with Hermansky-Pudlak syndrome.

Published in:

Platelets, 2020, v. 31, n. 4, p. 544, doi. 10.1080/09537104.2019.1663810

By:

Merideth, Melissa A.;
Introne, Wendy J.;
Wang, Jennifer A.;
O'Brien, Kevin J.;
Huizing, Marjan;
Gochuico, Bernadette R.

Publication type:

Article

Biallelic germline DDX41 variants in a patient with bone dysplasia, ichthyosis, and dysmorphic features.

Published in:

Human Genetics, 2024, v. 143, n. 12, p. 1445, doi. 10.1007/s00439-024-02708-8

By:

Sharma, Prashant;
McFadden, Jason R.;
Frost, F. Graeme;
Markello, Thomas C.;
Grange, Dorothy K.;
Introne, Wendy J.;
Gahl, William A.;
Malicdan, May Christine V.

Publication type:

Article

cDNA sequencing increases the molecular diagnostic yield in Chediak-Higashi syndrome.

Published in:

Frontiers in Genetics, 2023, v. 14, p. 1, doi. 10.3389/fgene.2023.1072784

By:

Kuptanon, Chulaluk;
Morimoto, Marie;
Nicoli, Elena-Raluca;
Stephen, Joshi;
Yarnell, David S.;
Dorward, Heidi;
Owen, William;
Parikh, Suhag;
Ozbek, Namik Yasar;
Malbora, Baris;
Ciccone, Carla;
Gunay-Aygun, Meral;
Gahl, William A.;
Introne, Wendy J.;
Malicdan, May Christine V.

Publication type:

Article

A diagnosis of Birt–Hogg–Dubé syndrome in individuals with Smith–Magenis syndrome: Recommendation for cancer screening.

Published in:

American Journal of Medical Genetics. Part A, 2023, v. 191, n. 2, p. 490, doi. 10.1002/ajmg.a.63049

By:

Vocke, Cathy D.;
Fleming, Leah R.;
Piskorski, Anna M.;
Amin, Ali;
Phornphutkul, Chanika;
de la Monte, Suzanne;
Vilboux, Thierry;
Duncan, Folami;
Pellegrino, Joan;
Braddock, Bonnie;
Middelton, Lindsay A.;
Schmidt, Laura S.;
Merino, Maria J.;
Cowen, Edward W.;
Introne, Wendy J.;
Linehan, W. Marston;
Smith, Ann C. M.

Publication type:

Article

Chediak-Higashi syndrome presenting as young-onset levodopa-responsive parkinsonism.

Published in:

Movement Disorders, 2013, v. 28, n. 2, p. 127, doi. 10.1002/mds.25386

By:

Bhambhani, Vikas;
Introne, Wendy J.;
Lungu, Codrin;
Cullinane, Andrew;
Toro, Camilo

Publication type:

Article

Impairment of Renal Function in Hermansky-Pudlak Syndrome.

Published in:

American Journal of Nephrology, 2025, v. 56, n. 1, p. 25, doi. 10.1159/000541835

By:

Yokoyama, Tadafumi;
O'Brien, Kevin J.;
Franklin, Tesiya M.;
Zuo, Ben Long G.;
Zuo, Mei Xing G.;
Merideth, Melissa A.;
Introne, Wendy J.;
Gochuico, Bernadette R.

Publication type:

Article

The neuropsychological phenotype of Chediak-Higashi disease.

Published in:

2019

By:

Shirazi, Talia N.;
Snow, Joseph;
Ham, Lillian;
Raglan, Greta B.;
Wiggs, Edythe A.;
Summers, Angela C.;
Toro, Camilo;
Introne, Wendy J.

Publication type:

journal article

Hermansky-Pudlak syndrome and oculocutaneous albinism in Chinese children with pigmentation defects and easy bruising.

Published in:

2019

By:

Power, Bradley;
Ferreira, Carlos R.;
Chen, Dong;
Zein, Wadih M.;
O'Brien, Kevin J.;
Introne, Wendy J.;
Stephen, Joshi;
Gahl, William A.;
Huizing, Marjan;
Malicdan, May Christine V.;
Adams, David R.;
Gochuico, Bernadette R.

Publication type:

journal article

Poster 12 Functional Limitations and Disabilities in Alkaptonuria in a 3‐Year Treatment Trial With Nitisinone.

Published in:

2012

By:

Perry, Monique B.;
Gahl, William;
Gerber, Naomi Lynn H.;
Introne, Wendy J.;
Shieh, Ching‐yi A.

Publication type:

Abstract

Poster 12 Functional Limitations and Disabilities in Alkaptonuria in a 3-Year Treatment Trial With Nitisinone

Published in:

2012

By:

Perry, Monique B.;
Gahl, William;
Gerber, Naomi Lynn H.;
Introne, Wendy J.;
Shieh, Ching-yi A.

Publication type:

Abstract

Differences in Granule Morphology yet Equally Impaired Exocytosis among Cytotoxic T Cells and NK Cells from Chediak-Higashi Syndrome Patients.

Published in:

Frontiers in Immunology, 2017, v. 8, p. 1, doi. 10.3389/fimmu.2017.00426

By:

Chiang, Samuel C. C.;
Wood, Stephanie M.;
Tesi, Bianca;
Akar, Himmet Haluk;
Al-Herz, Waleed;
Ammann, Sandra;
Belen, Fatma Burcu;
Caliskan, Umran;
Kaya, ZÙhre;
Lehmberg, Kai;
Patiroglu, Turkan;
Tokgoz, Huseyin;
Ün- Ùvar, AyşegÙ;
Introne, Wendy J.;
Henter, Jan-Inge;
Nordenskjöld, Magnus;
Ljunggren, Hans-Gustaf;
Meeths, Marie;
Ehl, Stephan;
Krzewski, Konrad

Publication type:

Article

Peripheral nervous system manifestations of Chediak-Higashi disease.

Published in:

2017

By:

Lehky, Tanya J.;
Groden, Catherine;
Lear, Barbara;
Toro, Camilo;
Introne, Wendy J.

Publication type:

journal article

Molecular Analysis of the Retinoic Acid Induced 1 Gene (RAI1) in Patients with Suspected Smith-Magenis Syndrome without the 17p11.2 Deletion.

Published in:

PLoS ONE, 2011, v. 6, n. 8, p. 1, doi. 10.1371/journal.pone.0022861

By:

Vilboux, Thierry;
Ciccone, Carla;
Blancato, Jan K.;
Cox, Gerald F.;
Deshpande, Charu;
Introne, Wendy J.;
Gahl, William A.;
Smith, Ann C. M.;
Huizing, Marjan

Publication type:

Article

Role of lysosomal trafficking regulator in autophagic lysosome reformation in neurons: a disease perspective.

Published in:

Neural Regeneration Research, 2024, v. 19, n. 5, p. 957, doi. 10.4103/1673-5374.385298

By:

Sharma, Prashant;
Serra-Vinardell, Jenny;
Introne, Wendy J.;
Malicdan, May Christine V.

Publication type:

Article

Correction: LYST deficiency impairs autophagic lysosome reformation in neurons and alters lysosome number and size.

Published in:

2023

By:

Serra-Vinardell, Jenny;
Sandler, Maxwell B.;
De Pace, Raffaella;
Manzella-Lapeira, Javier;
Cougnoux, Antony;
Keyvanfar, Keyvan;
Introne, Wendy J.;
Brzostowski, Joseph A.;
Ward, Michael E.;
Gahl, William A.;
Sharma, Prashant;
Malicdan, May Christine V.

Publication type:

Correction Notice

LYST deficiency impairs autophagic lysosome reformation in neurons and alters lysosome number and size.

Published in:

Cellular & Molecular Life Sciences, 2023, v. 80, n. 2, p. 1, doi. 10.1007/s00018-023-04695-x

By:

Serra-Vinardell, Jenny;
Sandler, Maxwell B.;
De Pace, Raffaella;
Manzella-Lapeira, Javier;
Cougnoux, Antony;
Keyvanfar, Keyvan;
Introne, Wendy J.;
Brzostowski, Joseph A.;
Ward, Michael E.;
Gahl, William A.;
Sharma, Prashant;
Malicdan, May Christine C.

Publication type:

Article

Diagnosis of Chediak Higashi disease in a 67‐year old woman.

Published in:

American Journal of Medical Genetics. Part A, 2020, v. 182, n. 12, p. 3007, doi. 10.1002/ajmg.a.61886

By:

Yarnell, David S.;
Roney, Joseph C.;
Teixeira, Cláudia;
Freitas, Maria I.;
Cipriano, Ana;
Leuschner, Pedro;
Krzewski, Konrad;
Stephen, Joshi;
Dorward, Heidi;
Gahl, William A.;
Gochuico, Bernadette R.;
Toro, Camilo;
Malicdan, May C.;
Introne, Wendy J.

Publication type:

Article

Severe bleeding with subclinical oculocutaneous albinism in a patient with a novel HPS6 missense variant.

Published in:

American Journal of Medical Genetics. Part A, 2018, v. 176, n. 12, p. 2819, doi. 10.1002/ajmg.a.40514

By:

Han, Chen G.;
O'Brien, Kevin J.;
Coon, Lea M.;
Majerus, Julie A.;
Huryn, Laryssa A.;
Haroutunian, Sara G.;
Moka, Nagabhishek;
Introne, Wendy J.;
Macnamara, Ellen;
Gahl, William A.;
Malicdan, May Christine V.;
Chen, Dong;
Krishnan, Koyamangalath;
Gochuico, Bernadette R.

Publication type:

Article

Atypical Chédiak-Higashi syndrome with attenuated phenotype: three adult siblings homozygous for a novel LYST deletion and with neurodegenerative disease.

Published in:

Orphanet Journal of Rare Diseases, 2013, v. 8, n. 1, p. 1, doi. 10.1186/1750-1172-8-46

By:

Weisfeld-Adams, James D.;
Mehta, Lakshmi;
Rucker, Janet C.;
Dembitzer, Francine R.;
Szporn, Arnold;
Lublin, Fred D.;
Introne, Wendy J.;
Bhambhani, Vikas;
Chicka, Michael C.;
Cho, Catherine

Publication type:

Article