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Loeys-Dietz and Shprintzen-Goldberg syndromes: analysis of TGF-β-opathies with craniofacial manifestations using an innovative multimodality method.

Journal of medical genetics

Almpani K, Liberton DK, Jani P, Keyvanfar C, Mishra R, Curry N, Orzechowski P, Frischmeyer-Guerrerio PA, Lee JS.
PMID: 34916229
J Med Genet. 2021 Dec 16; doi: 10.1136/jmedgenet-2021-107695. Epub 2021 Dec 16.

BACKGROUND: Elevated transforming growth factor-beta (TGF-β) signalling has been implicated in the pathogenesis of Loeys-Dietz syndrome (LDS) and Shprintzen-Goldberg syndrome (SGS). In this study, we provide a qualitative and quantitative analysis of the craniofacial and functional features among the...

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Almpani K, Liberton DK, Jani P, et al. Loeys-Dietz and Shprintzen-Goldberg syndromes: analysis of TGF-β-opathies with craniofacial manifestations using an innovative multimodality method. J Med Genet. 2021;doi: 10.1136/jmedgenet-2021-107695.
Almpani, K., Liberton, D. K., Jani, P., Keyvanfar, C., Mishra, R., Curry, N., Orzechowski, P., Frischmeyer-Guerrerio, P. A., & Lee, J. S. (2021). Loeys-Dietz and Shprintzen-Goldberg syndromes: analysis of TGF-β-opathies with craniofacial manifestations using an innovative multimodality method. Journal of medical genetics, . https://doi.org/10.1136/jmedgenet-2021-107695
Almpani, Konstantinia, et al. "Loeys-Dietz and Shprintzen-Goldberg syndromes: analysis of TGF-β-opathies with craniofacial manifestations using an innovative multimodality method." Journal of medical genetics vol. (2021). doi: https://doi.org/10.1136/jmedgenet-2021-107695
Almpani K, Liberton DK, Jani P, Keyvanfar C, Mishra R, Curry N, Orzechowski P, Frischmeyer-Guerrerio PA, Lee JS. Loeys-Dietz and Shprintzen-Goldberg syndromes: analysis of TGF-β-opathies with craniofacial manifestations using an innovative multimodality method. J Med Genet. 2021 Dec 16; doi: 10.1136/jmedgenet-2021-107695. Epub 2021 Dec 16. PMID: 34916229.
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Perceived Quality of Nursing Care Among Cancer Patients Attending Hawassa University Comprehensive Specialized Hospital Cancer Treatment Center; Hawassa Southern Ethiopia: Cross-Sectional Study.

Cancer management and research

Deribe B, Ayalew M, Geleta D, Gemechu L, Bogale N, Mengistu K, Gadissa A, Dula D, Ababi G, Gebretsadik A.
PMID: 33603468
Cancer Manag Res. 2021 Feb 10;13:1225-1231. doi: 10.2147/CMAR.S275729. eCollection 2021.

BACKGROUND: Cancer has become one of the most common and the second leading cause of death. According to grounded theory, quality care is meeting all the needs of the patients. Low-quality nursing care relates omission of nursing care required...

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Deribe B, Ayalew M, Geleta D, et al. Perceived Quality of Nursing Care Among Cancer Patients Attending Hawassa University Comprehensive Specialized Hospital Cancer Treatment Center; Hawassa Southern Ethiopia: Cross-Sectional Study. Cancer Manag Res. 2021;13:1225-1231doi: 10.2147/CMAR.S275729.
Deribe, B., Ayalew, M., Geleta, D., Gemechu, L., Bogale, N., Mengistu, K., Gadissa, A., Dula, D., Ababi, G., & Gebretsadik, A. (2021). Perceived Quality of Nursing Care Among Cancer Patients Attending Hawassa University Comprehensive Specialized Hospital Cancer Treatment Center; Hawassa Southern Ethiopia: Cross-Sectional Study. Cancer management and research, 131225-1231. https://doi.org/10.2147/CMAR.S275729
Deribe, Bedilu, et al. "Perceived Quality of Nursing Care Among Cancer Patients Attending Hawassa University Comprehensive Specialized Hospital Cancer Treatment Center; Hawassa Southern Ethiopia: Cross-Sectional Study." Cancer management and research vol. 13 (2021): 1225-1231. doi: https://doi.org/10.2147/CMAR.S275729
Deribe B, Ayalew M, Geleta D, Gemechu L, Bogale N, Mengistu K, Gadissa A, Dula D, Ababi G, Gebretsadik A. Perceived Quality of Nursing Care Among Cancer Patients Attending Hawassa University Comprehensive Specialized Hospital Cancer Treatment Center; Hawassa Southern Ethiopia: Cross-Sectional Study. Cancer Manag Res. 2021 Feb 10;13:1225-1231. doi: 10.2147/CMAR.S275729. eCollection 2021. PMID: 33603468; PMCID: PMC7882431.
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Effect of Medialization on Dyspnea Index in Unilateral Vocal Fold Paralysis.

Otolaryngology--head and neck surgery : official journal of American Academy of Otolaryngology-Head and Neck Surgery

Hoffman MR, Vandiver B, Derise N, Hapner ER, Leverson G, Simpson CB.
PMID: 34752158
Otolaryngol Head Neck Surg. 2021 Nov 09;1945998211056515. doi: 10.1177/01945998211056515. Epub 2021 Nov 09.

OBJECTIVE: Patients with unilateral vocal fold paralysis commonly report dysphonia and dysphagia. Dyspnea also occurs, with studies on treatment-related change producing mixed results. Studies including patient-reported outcomes have focused on single-question global scales. The Dyspnea Index (DI) includes 10...

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Hoffman MR, Vandiver B, Derise N, et al. Effect of Medialization on Dyspnea Index in Unilateral Vocal Fold Paralysis. Otolaryngol Head Neck Surg. 2021;1945998211056515doi: 10.1177/01945998211056515.
Hoffman, M. R., Vandiver, B., Derise, N., Hapner, E. R., Leverson, G., & Simpson, C. B. (2021). Effect of Medialization on Dyspnea Index in Unilateral Vocal Fold Paralysis. Otolaryngology--head and neck surgery : official journal of American Academy of Otolaryngology-Head and Neck Surgery, 1945998211056515. https://doi.org/10.1177/01945998211056515
Hoffman, Matthew R, et al. "Effect of Medialization on Dyspnea Index in Unilateral Vocal Fold Paralysis." Otolaryngology--head and neck surgery : official journal of American Academy of Otolaryngology-Head and Neck Surgery vol. (2021): 1945998211056515. doi: https://doi.org/10.1177/01945998211056515
Hoffman MR, Vandiver B, Derise N, Hapner ER, Leverson G, Simpson CB. Effect of Medialization on Dyspnea Index in Unilateral Vocal Fold Paralysis. Otolaryngol Head Neck Surg. 2021 Nov 09;1945998211056515. doi: 10.1177/01945998211056515. Epub 2021 Nov 09. PMID: 34752158.
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Prospective analysis of clinically significant prostate cancer detection with [.

European journal of nuclear medicine and molecular imaging

Bodar YJL, Zwezerijnen BGJC, van der Voorn PJ, Jansen BHE, Smit RS, Kol SQ, Meijer D, de Bie K, Yaqub M, Windhorst BAD, Hendrikse HNH, Vis AN, Oprea-Lager DE.
PMID: 34725727
Eur J Nucl Med Mol Imaging. 2021 Nov 02; doi: 10.1007/s00259-021-05604-9. Epub 2021 Nov 02.

PURPOSE: Multiparametric magnetic resonance imaging (mpMRI) is a well-established imaging method for localizing primary prostate cancer (PCa) and for guiding targeted prostate biopsies. [METHODS: Thirty prospectively included patients with intermediate to high-risk PCa underwent [RESULTS: Overall, 142 of 420...

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Bodar YJL, Zwezerijnen BGJC, van der Voorn PJ, et al. Prospective analysis of clinically significant prostate cancer detection with [. Eur J Nucl Med Mol Imaging. 2021;doi: 10.1007/s00259-021-05604-9.
Bodar, Y. J. L., Zwezerijnen, B. G. J. C., van der Voorn, P. J., Jansen, B. H. E., Smit, R. S., Kol, S. Q., Meijer, D., de Bie, K., Yaqub, M., Windhorst, B. A. D., Hendrikse, H. N. H., Vis, A. N., & Oprea-Lager, D. E. (2021). Prospective analysis of clinically significant prostate cancer detection with [. European journal of nuclear medicine and molecular imaging, . https://doi.org/10.1007/s00259-021-05604-9
Bodar, Yves J L, et al. "Prospective analysis of clinically significant prostate cancer detection with [." European journal of nuclear medicine and molecular imaging vol. (2021). doi: https://doi.org/10.1007/s00259-021-05604-9
Bodar YJL, Zwezerijnen BGJC, van der Voorn PJ, Jansen BHE, Smit RS, Kol SQ, Meijer D, de Bie K, Yaqub M, Windhorst BAD, Hendrikse HNH, Vis AN, Oprea-Lager DE. Prospective analysis of clinically significant prostate cancer detection with [. Eur J Nucl Med Mol Imaging. 2021 Nov 02; doi: 10.1007/s00259-021-05604-9. Epub 2021 Nov 02. PMID: 34725727.
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Mapping of Podoconiosis Cases and Risk Factors in Kenya: A Nationwide Cross-sectional Study.

The American journal of tropical medicine and hygiene

Sultani HM, Okoyo C, Kanyi HM, Njenga SM, Omondi WP, Ayagah I, Buliva M, Ngere I, Gachohi J, Muli J, Newport MJ, Deribe K.
PMID: 34398823
Am J Trop Med Hyg. 2021 Aug 16; doi: 10.4269/ajtmh.21-0248. Epub 2021 Aug 16.

Podoconiosis is a type of tropical lymphedema that is clinically distinguished from lymphatic filariasis (LF) because it is ascending and commonly bilateral but asymmetric. The disease is a result of a genetically determined inflammatory reaction to long-term exposure to...

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Sultani HM, Okoyo C, Kanyi HM, et al. Mapping of Podoconiosis Cases and Risk Factors in Kenya: A Nationwide Cross-sectional Study. Am J Trop Med Hyg. 2021;doi: 10.4269/ajtmh.21-0248.
Sultani, H. M., Okoyo, C., Kanyi, H. M., Njenga, S. M., Omondi, W. P., Ayagah, I., Buliva, M., Ngere, I., Gachohi, J., Muli, J., Newport, M. J., & Deribe, K. (2021). Mapping of Podoconiosis Cases and Risk Factors in Kenya: A Nationwide Cross-sectional Study. The American journal of tropical medicine and hygiene, . https://doi.org/10.4269/ajtmh.21-0248
Sultani, Hadley Matendechero, et al. "Mapping of Podoconiosis Cases and Risk Factors in Kenya: A Nationwide Cross-sectional Study." The American journal of tropical medicine and hygiene vol. (2021). doi: https://doi.org/10.4269/ajtmh.21-0248
Sultani HM, Okoyo C, Kanyi HM, Njenga SM, Omondi WP, Ayagah I, Buliva M, Ngere I, Gachohi J, Muli J, Newport MJ, Deribe K. Mapping of Podoconiosis Cases and Risk Factors in Kenya: A Nationwide Cross-sectional Study. Am J Trop Med Hyg. 2021 Aug 16; doi: 10.4269/ajtmh.21-0248. Epub 2021 Aug 16. PMID: 34398823; PMCID: PMC8592215.
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Developmental toxicity of Nafion byproduct 2 (NBP2) in the Sprague-Dawley rat with comparisons to hexafluoropropylene oxide-dimer acid (HFPO-DA or GenX) and perfluorooctane sulfonate (PFOS).

Environment international

Conley JM, Lambright CS, Evans N, Medlock-Kakaley E, Hill D, McCord J, Strynar MJ, Wehmas LC, Hester S, MacMillan DK, Gray LE.
PMID: 34952357
Environ Int. 2021 Dec 22;160:107056. doi: 10.1016/j.envint.2021.107056. Epub 2021 Dec 22.

Nafion byproduct 2 (NBP2) is a polyfluoroalkyl ether sulfonic acid that was recently detected in surface water, drinking water, and human serum samples from monitoring studies in North Carolina, USA. We orally exposed pregnant Sprague-Dawley rats to NBP2 from...

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Conley JM, Lambright CS, Evans N, et al. Developmental toxicity of Nafion byproduct 2 (NBP2) in the Sprague-Dawley rat with comparisons to hexafluoropropylene oxide-dimer acid (HFPO-DA or GenX) and perfluorooctane sulfonate (PFOS). Environ Int. 2021;160:107056doi: 10.1016/j.envint.2021.107056.
Conley, J. M., Lambright, C. S., Evans, N., Medlock-Kakaley, E., Hill, D., McCord, J., Strynar, M. J., Wehmas, L. C., Hester, S., MacMillan, D. K., & Gray, L. E. (2021). Developmental toxicity of Nafion byproduct 2 (NBP2) in the Sprague-Dawley rat with comparisons to hexafluoropropylene oxide-dimer acid (HFPO-DA or GenX) and perfluorooctane sulfonate (PFOS). Environment international, 160107056. https://doi.org/10.1016/j.envint.2021.107056
Conley, Justin M, et al. "Developmental toxicity of Nafion byproduct 2 (NBP2) in the Sprague-Dawley rat with comparisons to hexafluoropropylene oxide-dimer acid (HFPO-DA or GenX) and perfluorooctane sulfonate (PFOS)." Environment international vol. 160 (2021): 107056. doi: https://doi.org/10.1016/j.envint.2021.107056
Conley JM, Lambright CS, Evans N, Medlock-Kakaley E, Hill D, McCord J, Strynar MJ, Wehmas LC, Hester S, MacMillan DK, Gray LE. Developmental toxicity of Nafion byproduct 2 (NBP2) in the Sprague-Dawley rat with comparisons to hexafluoropropylene oxide-dimer acid (HFPO-DA or GenX) and perfluorooctane sulfonate (PFOS). Environ Int. 2021 Dec 22;160:107056. doi: 10.1016/j.envint.2021.107056. Epub 2021 Dec 22. PMID: 34952357.
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Gastroduodenal intussusception as a rare cause of pancreatitis in a young female Ugandan: A case report.

International journal of surgery case reports

Michael O, Derick K, Ponsiano O.
PMID: 34844196
Int J Surg Case Rep. 2021 Nov 25;89:106632. doi: 10.1016/j.ijscr.2021.106632. Epub 2021 Nov 25.

INTRODUCTION AND IMPORTANCE: Gastroduodenal intussusceptions are rare and usually secondary to gastric lesions acting as the lead point. Gastrointestinal stromal tumors (GISTs) commonly occur in the stomach (40-60%). Other gastric tumors include; adenocarcinomas, leiomyomas, lymphomas among others. When gastric...

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Michael O, Derick K, Ponsiano O. Gastroduodenal intussusception as a rare cause of pancreatitis in a young female Ugandan: A case report. Int J Surg Case Rep. 2021;89:106632doi: 10.1016/j.ijscr.2021.106632.
Michael, O., Derick, K., & Ponsiano, O. (2021). Gastroduodenal intussusception as a rare cause of pancreatitis in a young female Ugandan: A case report. International journal of surgery case reports, 89106632. https://doi.org/10.1016/j.ijscr.2021.106632
Michael, Okello, et al. "Gastroduodenal intussusception as a rare cause of pancreatitis in a young female Ugandan: A case report." International journal of surgery case reports vol. 89 (2021): 106632. doi: https://doi.org/10.1016/j.ijscr.2021.106632
Michael O, Derick K, Ponsiano O. Gastroduodenal intussusception as a rare cause of pancreatitis in a young female Ugandan: A case report. Int J Surg Case Rep. 2021 Nov 25;89:106632. doi: 10.1016/j.ijscr.2021.106632. Epub 2021 Nov 25. PMID: 34844196; PMCID: PMC8636807.
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Targeting MEF2D-fusion Oncogenic Transcriptional Circuitries in B-cell Precursor Acute Lymphoblastic Leukemia.

Blood cancer discovery

Tsuzuki S, Yasuda T, Kojima S, Kawazu M, Akahane K, Inukai T, Imaizumi M, Morishita T, Miyamura K, Ueno T, Karnan S, Ota A, Hyodo T, Konishi H, Sanada M, Nagai H, Horibe K, Tomita A, Suzuki K, Muramatsu H, Takahashi Y, Miyazaki Y, Matsumura I, Kiyoi H, Hosokawa Y, Mano H, Hayakawa F.
PMID: 35015692
Blood Cancer Discov. 2020 Jul;1(1):82-95. doi: 10.1158/2643-3230.BCD-19-0080. Epub 2020 Jun 10.

The cellular context that integrates gene expression, signaling, and metabolism dictates the oncogenic behavior and shapes the treatment responses in distinct cancer types. Although chimeric fusion proteins involving transcription factors (TF) are hallmarks of many types of acute lymphoblastic...

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Tsuzuki S, Yasuda T, Kojima S, et al. Targeting MEF2D-fusion Oncogenic Transcriptional Circuitries in B-cell Precursor Acute Lymphoblastic Leukemia. Blood Cancer Discov. 2020;1(1):82-95doi: 10.1158/2643-3230.BCD-19-0080.
Tsuzuki, S., Yasuda, T., Kojima, S., Kawazu, M., Akahane, K., Inukai, T., Imaizumi, M., Morishita, T., Miyamura, K., Ueno, T., Karnan, S., Ota, A., Hyodo, T., Konishi, H., Sanada, M., Nagai, H., Horibe, K., Tomita, A., Suzuki, K., Muramatsu, H., Takahashi, Y., Miyazaki, Y., Matsumura, I., Kiyoi, H., Hosokawa, Y., Mano, H., & Hayakawa, F. (2020). Targeting MEF2D-fusion Oncogenic Transcriptional Circuitries in B-cell Precursor Acute Lymphoblastic Leukemia. Blood cancer discovery, 1(1), 82-95. https://doi.org/10.1158/2643-3230.BCD-19-0080
Tsuzuki, Shinobu, et al. "Targeting MEF2D-fusion Oncogenic Transcriptional Circuitries in B-cell Precursor Acute Lymphoblastic Leukemia." Blood cancer discovery vol. 1,1 (2020): 82-95. doi: https://doi.org/10.1158/2643-3230.BCD-19-0080
Tsuzuki S, Yasuda T, Kojima S, Kawazu M, Akahane K, Inukai T, Imaizumi M, Morishita T, Miyamura K, Ueno T, Karnan S, Ota A, Hyodo T, Konishi H, Sanada M, Nagai H, Horibe K, Tomita A, Suzuki K, Muramatsu H, Takahashi Y, Miyazaki Y, Matsumura I, Kiyoi H, Hosokawa Y, Mano H, Hayakawa F. Targeting MEF2D-fusion Oncogenic Transcriptional Circuitries in B-cell Precursor Acute Lymphoblastic Leukemia. Blood Cancer Discov. 2020 Jul;1(1):82-95. doi: 10.1158/2643-3230.BCD-19-0080. Epub 2020 Jun 10. PMID: 35015692.
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Meaningful engagement of the patient in rare cancer research: sarcoma as an exemplar.

Current problems in cancer

Reinke DK.
PMID: 34289946
Curr Probl Cancer. 2021 Aug;45(4):100772. doi: 10.1016/j.currproblcancer.2021.100772. Epub 2021 Jul 01.

Patient advocates who understand scientific methods and proper research processes can bring valuable perspectives to modern research. This is particularly important in rare cancers like sarcoma as each patient becomes a precious source of information to better diagnose, understand...

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Reinke DK. Meaningful engagement of the patient in rare cancer research: sarcoma as an exemplar. Curr Probl Cancer. 2021;45(4):100772doi: 10.1016/j.currproblcancer.2021.100772.
Reinke, D. K. (2021). Meaningful engagement of the patient in rare cancer research: sarcoma as an exemplar. Current problems in cancer, 45(4), 100772. https://doi.org/10.1016/j.currproblcancer.2021.100772
Reinke, Denise K. "Meaningful engagement of the patient in rare cancer research: sarcoma as an exemplar." Current problems in cancer vol. 45,4 (2021): 100772. doi: https://doi.org/10.1016/j.currproblcancer.2021.100772
Reinke DK. Meaningful engagement of the patient in rare cancer research: sarcoma as an exemplar. Curr Probl Cancer. 2021 Aug;45(4):100772. doi: 10.1016/j.currproblcancer.2021.100772. Epub 2021 Jul 01. PMID: 34289946.
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Gastroduodenal intussusception as a rare cause of pancreatitis in a young female Ugandan: A case report.

International journal of surgery case reports

Michael O, Derick K, Ponsiano O.
PMID: 34844196
Int J Surg Case Rep. 2021 Nov 25;89:106632. doi: 10.1016/j.ijscr.2021.106632. Epub 2021 Nov 25.

INTRODUCTION AND IMPORTANCE: Gastroduodenal intussusceptions are rare and usually secondary to gastric lesions acting as the lead point. Gastrointestinal stromal tumors (GISTs) commonly occur in the stomach (40-60%). Other gastric tumors include; adenocarcinomas, leiomyomas, lymphomas among others. When gastric...

Cite
Michael O, Derick K, Ponsiano O. Gastroduodenal intussusception as a rare cause of pancreatitis in a young female Ugandan: A case report. Int J Surg Case Rep. 2021;89:106632doi: 10.1016/j.ijscr.2021.106632.
Michael, O., Derick, K., & Ponsiano, O. (2021). Gastroduodenal intussusception as a rare cause of pancreatitis in a young female Ugandan: A case report. International journal of surgery case reports, 89106632. https://doi.org/10.1016/j.ijscr.2021.106632
Michael, Okello, et al. "Gastroduodenal intussusception as a rare cause of pancreatitis in a young female Ugandan: A case report." International journal of surgery case reports vol. 89 (2021): 106632. doi: https://doi.org/10.1016/j.ijscr.2021.106632
Michael O, Derick K, Ponsiano O. Gastroduodenal intussusception as a rare cause of pancreatitis in a young female Ugandan: A case report. Int J Surg Case Rep. 2021 Nov 25;89:106632. doi: 10.1016/j.ijscr.2021.106632. Epub 2021 Nov 25. PMID: 34844196; PMCID: PMC8636807.
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Heterozygous variants in ZBTB7A cause a neurodevelopmental disorder associated with symptomatic overgrowth of pharyngeal lymphoid tissue, macrocephaly, and elevated fetal hemoglobin.

American journal of medical genetics. Part A

von der Lippe C, Tveten K, Prescott TE, Holla ØL, Busk ØL, Burke KB, Sansbury FH, Baptista J, Fry AE, Lim D, Jolles S, Evans J, Osio D, Macmillan C, Bruno I, Faletra F, Climent S, Urreitzi R, Hoenicka J, Palau F, Cohen ASA, Engleman K, Zhou D, Amudhavalli SM, Jeanne M, Bonnet-Brilhault F, Lévy J, Drunat S, Derive N, Haug MG, Thorstensen WM.
PMID: 34515416
Am J Med Genet A. 2022 Jan;188(1):272-282. doi: 10.1002/ajmg.a.62492. Epub 2021 Sep 13.

By clinical whole exome sequencing, we identified 12 individuals with ages 3 to 37 years, including three individuals from the same family, with a consistent phenotype of intellectual disability (ID), macrocephaly, and overgrowth of adenoid tissue. All 12 individuals...

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von der Lippe C, Tveten K, Prescott TE, et al. Heterozygous variants in ZBTB7A cause a neurodevelopmental disorder associated with symptomatic overgrowth of pharyngeal lymphoid tissue, macrocephaly, and elevated fetal hemoglobin. Am J Med Genet A. 2021;188(1):272-282doi: 10.1002/ajmg.a.62492.
von der Lippe, C., Tveten, K., Prescott, T. E., Holla, �. �. L., Busk, �. �. L., Burke, K. B., Sansbury, F. H., Baptista, J., Fry, A. E., Lim, D., Jolles, S., Evans, J., Osio, D., Macmillan, C., Bruno, I., Faletra, F., Climent, S., Urreitzi, R., Hoenicka, J., Palau, F., Cohen, A. S. A., Engleman, K., Zhou, D., Amudhavalli, S. M., Jeanne, M., Bonnet-Brilhault, F., Lévy, J., Drunat, S., Derive, N., Haug, M. G., & Thorstensen, W. M. (2022). Heterozygous variants in ZBTB7A cause a neurodevelopmental disorder associated with symptomatic overgrowth of pharyngeal lymphoid tissue, macrocephaly, and elevated fetal hemoglobin. American journal of medical genetics. Part A, 188(1), 272-282. https://doi.org/10.1002/ajmg.a.62492
von der Lippe, Charlotte, et al. "Heterozygous variants in ZBTB7A cause a neurodevelopmental disorder associated with symptomatic overgrowth of pharyngeal lymphoid tissue, macrocephaly, and elevated fetal hemoglobin." American journal of medical genetics. Part A vol. 188,1 (2022): 272-282. doi: https://doi.org/10.1002/ajmg.a.62492
von der Lippe C, Tveten K, Prescott TE, Holla ØL, Busk ØL, Burke KB, Sansbury FH, Baptista J, Fry AE, Lim D, Jolles S, Evans J, Osio D, Macmillan C, Bruno I, Faletra F, Climent S, Urreitzi R, Hoenicka J, Palau F, Cohen ASA, Engleman K, Zhou D, Amudhavalli SM, Jeanne M, Bonnet-Brilhault F, Lévy J, Drunat S, Derive N, Haug MG, Thorstensen WM. Heterozygous variants in ZBTB7A cause a neurodevelopmental disorder associated with symptomatic overgrowth of pharyngeal lymphoid tissue, macrocephaly, and elevated fetal hemoglobin. Am J Med Genet A. 2022 Jan;188(1):272-282. doi: 10.1002/ajmg.a.62492. Epub 2021 Sep 13. PMID: 34515416.
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Baseline Mapping of Neglected Tropical Diseases in Africa: The Accelerated WHO/AFRO Mapping Project.

The American journal of tropical medicine and hygiene

Rebollo MP, Onyeze AN, Tiendrebeogo A, Senkwe MN, Impouma B, Ogoussan K, Zouré HGM, Deribe K, Cano J, Kinvi EB, Majewski A, Ottesen EA, Lammie P.
PMID: 33901001
Am J Trop Med Hyg. 2021 Apr 26; doi: 10.4269/ajtmh.20-1538. Epub 2021 Apr 26.

Mapping is a prerequisite for effective implementation of interventions against neglected tropical diseases (NTDs). Before the accelerated WHO/AFRO NTD Mapping Project was initiated in 2014, mapping efforts in many countries were frequently carried out in an ad hoc and...

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Rebollo MP, Onyeze AN, Tiendrebeogo A, et al. Baseline Mapping of Neglected Tropical Diseases in Africa: The Accelerated WHO/AFRO Mapping Project. Am J Trop Med Hyg. 2021;doi: 10.4269/ajtmh.20-1538.
Rebollo, M. P., Onyeze, A. N., Tiendrebeogo, A., Senkwe, M. N., Impouma, B., Ogoussan, K., Zouré, H. G. M., Deribe, K., Cano, J., Kinvi, E. B., Majewski, A., Ottesen, E. A., & Lammie, P. (2021). Baseline Mapping of Neglected Tropical Diseases in Africa: The Accelerated WHO/AFRO Mapping Project. The American journal of tropical medicine and hygiene, . https://doi.org/10.4269/ajtmh.20-1538
Rebollo, Maria P, et al. "Baseline Mapping of Neglected Tropical Diseases in Africa: The Accelerated WHO/AFRO Mapping Project." The American journal of tropical medicine and hygiene vol. (2021). doi: https://doi.org/10.4269/ajtmh.20-1538
Rebollo MP, Onyeze AN, Tiendrebeogo A, Senkwe MN, Impouma B, Ogoussan K, Zouré HGM, Deribe K, Cano J, Kinvi EB, Majewski A, Ottesen EA, Lammie P. Baseline Mapping of Neglected Tropical Diseases in Africa: The Accelerated WHO/AFRO Mapping Project. Am J Trop Med Hyg. 2021 Apr 26; doi: 10.4269/ajtmh.20-1538. Epub 2021 Apr 26. PMID: 33901001; PMCID: PMC8176498.
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