Works matching Mucosal neuroma syndrome

Results: 71

SOS1 frameshift mutations cause pure mucosal neuroma syndrome, a clinical phenotype distinct from multiple endocrine neoplasia type 2B.

Published in:

Clinical Endocrinology, 2016, v. 84, n. 5, p. 715, doi. 10.1111/cen.13008

By:

Owens, Martina;
Kivuva, Emma;
Quinn, Anthony;
Brennan, Paul;
Caswell, Richard;
Allen, Hana Lango;
Vaidya, Bijay;
Ellard, Sian

Publication type:

Article

Prominent corneal nerves in pure mucosal neuroma syndrome, a clinical phenotype distinct from multiple endocrine neoplasia type 2B.

Published in:

2023

By:

Yin, L;
Wang, YNZ;
Zhu, J;
Tan, CY;
Sun, C;
Yao, Y

Publication type:

Case Study

Hypertrophy of peripheral nerves in the syndrome of multiple mucosal neuromas, endocrine tumours and marfanoid habitus.

Published in:

Acta Neuropathologica, 1974, v. 30, n. 3, p. 251, doi. 10.1007/BF00688925

By:

Joosten, E.;
Gabreëls-Festen, A.;
Horstink, M.;
Gabreëls, F.;
Jaspar, H.;
Korten, J.;
Vingerhoets, H.

Publication type:

Article

Intestinal Ganglioneuromatosis with the Mucosal Neuroma -- Medullary Thyroid Carcinoma -- Pheochromocytoma Syndrome.

Published in:

American Journal of Gastroenterology (Springer Nature), 1976, v. 65, n. 3, p. 249

By:

Whittle, Thomas S.;
Goodwin Jr., Malcolm

Publication type:

Article

(7) Oral mucosal neuroma-medullary thyroid carcinoma syndrome.

Published in:

British Journal of Dermatology, 1973, v. 89, p. 40, doi. 10.1111/j.1365-2133.1973.tb03440.x

By:

Walker, D. M.

Publication type:

Article

Oral mucosal neuroma -- medullary thyroid carcinoma syndrome.

Published in:

British Journal of Dermatology, 1973, v. 88, n. 6, p. 599, doi. 10.1111/j.1365-2133.1973.tb08025.x

By:

Walker, D. Murray

Publication type:

Article

Results of Surgical Therapy in Patients with Medullary Thyroid Carcinoma.

Published in:

Indian Journal of Surgery, 2016, v. 78, n. 4, p. 309, doi. 10.1007/s12262-015-1386-5

By:

Vlad, Mihaela;
Zosin, Ioana;
Timar, Bogdan;
Lazar, Fulger;
Vlad, Adrian;
Timar, Romulus;
Cornianu, Marioara

Publication type:

Article

Arthroscopic treatment of the atraumatic shoulder instability: a case series with two-year follow-up evaluation.

Published in:

Muscles, Ligaments & Tendons Journal (MLTJ), 2016, v. 6, n. 4, p. 433

By:

Gervasi, Enrico;
Sebastiani, Enrico;
Cautero, Enrico;
Spicuzza, Alessandro

Publication type:

Article

Presence of human papillomavirus 16 in acral Bowen disease as a predictor of a less efficacious response to photodynamic therapy: a retrospective case series of nine patients.

Published in:

Clinical & Experimental Dermatology, 2018, v. 43, n. 6, p. 726, doi. 10.1111/ced.13555

By:

Barrutia‐Borque, A.;
Gardeazabal‐García, J.;
Guergué‐Diaz‐de‐Cerio, O.;
Velasco‐Benito, V.;
Aranzamendi‐Zaldumbide, M.;
Lasa‐Elgezua, O.

Publication type:

Article

Orolabial signs are important clues for diagnosis of the rare endocrine syndrome MEN 2B. Presentation of two unrelated cases.

Published in:

2008

By:

Sallai, Ágnes;
Hosszú, Éva;
Gergies, Péter;
Rácz, Károly;
Fekete, György;
Sallai, Agnes;
Hosszú, Eva;
Gergics, Péter;
Rácz, Károly;
Fekete, György

Publication type:

journal article

In Vivo Confocal Microscopic Architecture of Corneal Nerves in a Case of Multiple Endocrine Neoplasia Type 2b.

Published in:

Middle East African Journal of Ophthalmology, 2016, v. 23, n. 4, p. 326, doi. 10.4103/0974-9233.194094

By:

Malhotra, Chintan;
Jain, Arun Kumar;
Thapa, Bikram;
Sahu, Sabin

Publication type:

Article

Protective Effects of Methanol Extract of Vernonia amygdalina (del.) Leaf on Aspirin-Induced Gastric Ulceration and Oxidative Mucosal Damage in a Rat Model of Gastric Injury.

Published in:

Dose-Response, 2018, v. 16, n. 3, p. 1, doi. 10.1177/1559325818785087

By:

Adefisayo, Modinat A.;
Akomolafe, Rufus O.;
Akinsomisoye, Olumide S.;
Alabi, Quadri K.;
Ogundipe, Laofe;
Omole, Joseph G.;
Olamilosoye, Kehinde P.

Publication type:

Article

Four Cases of Mucosal Neuroma Syndrome: Multiple Endocrine Neoplasm 2B or Not 2B?

Published in:

Journal of Clinical Endocrinology & Metabolism, 1998, v. 83, n. 1, p. 17, doi. 10.1210/jcem.83.1.4504

By:

GORDON, CATHERINE M.;
MAJZOUB, JOSEPH A.;
MARSH, DEBBIE J.;
MULLIKEN, JOHN B.;
PONDER, BRUCE A. J.;
ROBINSON, BRUCE G.;
ENG, CHARIS

Publication type:

Article

Patch Test-Directed Dietary Avoidance in the Management of Irritable Bowel Syndrome.

Published in:

Cutis, 2021, v. 108, n. 2, p. 91, doi. 10.12788/cutis.0321

By:

Stierstorfer, Michael B.;
Toro, Butros

Publication type:

Article

Gingival Metastasis: A Case Report and Literature Review.

Published in:

Permanente Journal, 2016, v. 20, n. 1, p. 71, doi. 10.7812/TPP/15-057

By:

Nuyen, Brian A.;
Tang, Christopher G.

Publication type:

Article

Diversity of mutations in the RET proto-oncogene and its oncogenic mechanism in medullary thyroid cancer.

Published in:

Critical Reviews in Clinical Laboratory Sciences, 2016, v. 53, n. 4, p. 217, doi. 10.3109/10408363.2015.1129529

By:

Hedayati, Mehdi;
Zarif Yeganeh, Marjan;
Sheikholeslami, Sara;
Afsari, Farinaz

Publication type:

Article

Molecular mechanisms of development of multiple endocrine neoplasia 2 by RET mutations.

Published in:

1998

By:

Takahashi;
Asai;
Iwashita;
Murakami;
Ito;
Takahashi, Masahide;
Takahashi, M;
Asai, N;
Iwashita, T;
Murakami, H;
Ito, S

Publication type:

journal article

A useful approach for making the correct diagnosis of mucosal melanoma.

Published in:

Acta Oto-Laryngologica Case Reports, 2016, v. 1, n. 1, p. 79, doi. 10.1080/23772484.2016.1226843

By:

Kamizono, Kenichi;
Fujii, Satoshi;
Katsura, Motoyasu;
Hayashi, Ryuichi

Publication type:

Article

Enteral feeding and its impact on the gut immune system and intestinal mucosal barrier.

Published in:

Gastroenterology Review / Przegląd Gastroenterologiczny, 2015, v. 10, n. 2, p. 71, doi. 10.5114/pg.2015.48997

By:

Szefel, Jarosław;
Kruszewski, Wiesław J.;
Buczek, Tomasz

Publication type:

Article

Laryngeal neuromas in a case of multiple endocrine neoplasia type 2B.

Published in:

ENT: Ear, Nose & Throat Journal, 2015, v. 94, n. 10/11, p. E20

By:

McClurg, Stanley W.;
Wakely Jr., Paul E.;
Chio, Eugene G.

Publication type:

Article

Founder Effect of the RET<sup>C611Y</sup> Mutation in Multiple Endocrine Neoplasia 2A in Denmark: A Nationwide Study.

Published in:

Thyroid, 2017, v. 27, n. 12, p. 1505, doi. 10.1089/thy.2017.0404

By:

Mathiesen, Jes Sloth;
Kroustrup, Jens Peter;
Vestergaard, Peter;
Stochholm, Kirstine;
Poulsen, Per Løgstrup;
Rasmussen, Åse Krogh;
Feldt-Rasmussen, Ulla;
Gaustadnes, Mette;
Ørntoft, Torben Falck;
Rossing, Maria;
Nielsen, Finn Cilius;
Albrechtsen, Anders;
Brixen, Kim;
Godballe, Christian;
Frederiksen, Anja Lisbeth

Publication type:

Article

Assessment of Depression, Anxiety, Quality of Life, and Coping in Long-Standing Multiple Endocrine Neoplasia Type 2 Patients.

Published in:

Thyroid, 2017, v. 27, n. 5, p. 693, doi. 10.1089/thy.2016.0148

By:

Rodrigues, Karine C.;
Toledo, Rodrigo A.;
Coutinho, Flavia L.;
Nunes, Adriana B.;
Maciel, Rui M.B.;
Hoff, Ana O.;
Tavares, Marcos C.;
Toledo, Sergio P. A.;
Lourenço, Delmar M.

Publication type:

Article

Aggressive Medullary Thyroid Carcinoma in a Ten-Year-Old Patient with Multiple Endocrine Neoplasia 2B Due to the A883F Mutation.

Published in:

Thyroid, 2015, v. 25, n. 1, p. 139, doi. 10.1089/thy.2014.0177

By:

Mathiesen, Jes Sloth;
Stochholm, Kirstine;
Poulsen, Per Loegstrup;
Vestergaard, Else Marie;
Christiansen, Peer;
Vestergaard, Peter

Publication type:

Article

A SYNDROME OF MULTIPLE MUCOSAL NEUROMA, MEDULLARY THYROID CARCINOMA AND PHEOCHROMOCYTOMA: REPORT OF A CASE.

Published in:: Japanese Journal of Urology / Nihon Hinyokika Gakkai Zasshi, 1977, v. 68, n. 3, p. 294
Publication type:: Article

RET gene mutations (genotype and phenotype) of multiple endocrine neoplasia type 2 and familial medullary thyroid carcinoma.

Published in:

Cancer (0008543X), 2014, v. 120, n. 13, p. 1920, doi. 10.1002/cncr.28661

By:

Krampitz, Geoffrey W.;
Norton, Jeffrey A.

Publication type:

Article

Endovascular treatment of complex aortic aneurysms: prevalence of acute kidney injury and effect on long-term renal function.

Published in:

2016

By:

Sailer, Anna;
Nelemans, Patricia;
Berlo, Camille;
Yazar, Ozan;
Haan, Michiel;
Fleischmann, Dominik;
Schurink, Geert;
Sailer, Anna M;
Nelemans, Patricia J;
van Berlo, Camille;
de Haan, Michiel W;
Schurink, Geert Willem H

Publication type:

journal article

Synchronous diffuse ganglioneuromatosis and multiple schwannomas of the colon: A case report and literature review.

Published in:

Experimental & Therapeutic Medicine, 2015, v. 9, n. 3, p. 733, doi. 10.3892/etm.2015.2212

By:

CHANGLI LU;
YAN QIU;
XUFENG LU;
GANDI LI;
HONG BU

Publication type:

Article

Colposcopy - A Novel Diagnostic Technique for Oral Mucosal Lesions.

Published in:

Journal of Clinical & Diagnostic Research, 2014, v. 8, n. 10, p. 25, doi. 10.7860/JCDR/2014/10234.5038

By:

KUMAR, ASHWINI;
SHANKAR, Y. UDAY;
PRAKASH, SATHYA;
RADHIKA, B.;
FATIMA, NIKHAT

Publication type:

Article

Equine gastric ulcer syndrome: risk factors and therapeutic aspects.

Published in:

Revista Colombiana de Ciencias Pecuarias, 2014, v. 27, n. 3, p. 157, doi. 10.17533/udea.rccp.324889

By:

Martinez Aranzalez, José R.;
Silveira Alves, Geraldo E.

Publication type:

Article

RET oncogene in MEN2, MEN2B, MTC and other forms of thyroid cancer.

Published in:

2008

By:

Lodish, Maya B.;
Stratakis, Constantine A.

Publication type:

journal article

Painful Hip Leading to the Diagnosis of MEN 2B Syndrome.

Published in:

Case Reports in Endocrinology, 2012, p. 1, doi. 10.1155/2012/567060

By:

Ahmad, Mehtab;
Rizvi, Imran;
Jain, Amit;
Zaidi, Noorin

Publication type:

Article

Perioperative Severe Hypotension in a Patient with Multiple Endocrine Neoplasia Type IIb and Bilateral Adrenalectomies: Time to Review the Evidence for Stress Dose Steroids.

Published in:

Case Reports in Anesthesiology, 2016, p. 1, doi. 10.1155/2016/8153296

By:

Tan, Jens;
Zavala, Acsa;
Hagan, Katherine B.;
Van Meter, Antoinette;
Williams, Uduak Ursula;
Zhang, Wei;
Owusu-Agyemang, Pascal

Publication type:

Article

Confocal Scan Imaging and Impression Cytology of the Cornea in a Case of Multiple Endocrine Neoplasia Type-2b.

Published in:

2012

By:

Javadi, Mohammad-Ali;
Kanavi, Mozhgan Rezaei;
Faramarzi, Amir;
Feizi, Sepehr;
Azizi, Fereidoun;
Javadi, Fatemeh

Publication type:

Case Study

Human disease: Germline selection for deleterious mutation in males.

Published in:

2012

By:

Casci, Tanita

Publication type:

journal article

Conservative Treatment of a Large Facial Midroot Perforation.

Published in:

2015

By:

Kerner, Stephane;
Bronnec, François

Publication type:

Case Study

Distribution of RET Mutations and Evaluation of Treatment Approaches in Hereditary Medullary Thyroid Carcinoma in Turkey.

Published in:

Journal of Clinical Research in Pediatric Endocrinology, 2016, v. 8, n. 1, p. 13, doi. 10.4274/jcrpe.2219

By:

Aydoğan, Berna İmge;
Yüksel, Bağdagül;
Tuna, Mazhar Müslüm;
Başaran, Mehtap Navdar;
Kocaeli, Ayşen Akkurt;
Ertörer, Melek Eda;
Aydın, Kadriye;
Güldiken, Sibel;
Şimşek, Yasin;
Karaca, Züleyha Cihan;
Yılmaz, Merve;
Aktürk, Müjde;
Anaforoğlu, İnan;
Kebapçı, Nur;
Duran, Cevdet;
Taşlıpınar, Abdullah;
Kulaksızoğlu, Mustafa;
Gürsoy, Alptekin;
Dağdelen, Selçuk;
Erdoğan, Murat Faik

Publication type:

Article

Clinical utility gene card for: multiple endocrine neoplasia type 2.

Published in:

European Journal of Human Genetics, 2012, v. 20, n. 1, p. -1, doi. 10.1038/ejhg.2011.142

By:

Raue, Friedhelm;
Rondot, Susanne;
Schulze, Egbert;
Szpak-Ulczok, Sylwia;
Jarzab, Barbara;
Frank-Raue, Karin

Publication type:

Article

Pulmonary Function in Patients With Multiple Endocrine Neoplasia 2B.

Published in:

2020

By:

Fuller, Sarah;
Del Rivero, Jaydira;
Venzon, David;
Ilanchezhian, Maran;
Allen, Deborah;
Folio, Les;
Ling, Alexander;
Widemann, Brigitte;
Fontana, Joseph R.;
Glod, John

Publication type:

journal article

Epidemiology, Clinical Features, and Genetics of Multiple Endocrine Neoplasia Type 2B in a Complete Population.

Published in:

Oncologist, 2014, v. 19, n. 12, p. 1284, doi. 10.1634/theoncologist.2014-0277

By:

Znaczko, Anna;
Donnelly, Deirdre E.;
Morrison, Patrick J.

Publication type:

Article

MEN1, MEN4, and Carney Complex: Pathology and Molecular Genetics.

Published in:

Neuroendocrinology, 2016, v. 103, n. 1, p. 18, doi. 10.1159/000371819

By:

Schernthaner-Reiter, Marie Helene;
Trivellin, Giampaolo;
Stratakis, Constantine A.

Publication type:

Article

Composite paraganglioma-ganglioneuroma concomitant with adrenal metastasis of medullary thyroid carcinoma in a patient with multiple endocrine neoplasia type 2B: A case report.

Published in:

2017

By:

Yamasaki, Mutsushi;
Sato, Yoshiyasu;
Nomura, Takeo;
Sato, Fuminori;
Uchino, Shinya;
Mimata, Hiromitsu

Publication type:

Case Study

Long-Term Survivorship in Multiple Endocrine Neoplasia Type 2B Diagnosed Before and in the New Millennium.

Published in:

2017

By:

Raue, Friedhelm;
Dralle, Henning;
Machens, Andreas;
Bruckner, Thomas;
Frank-Raue, Karin

Publication type:

journal article

Risk Profile of the RET A883F Germline Mutation: An International Collaborative Study.

Published in:

2017

By:

Mathiesen, Jes Sloth;
Habra, Mouhammed Amir;
Bassett, John Howard Duncan;
Choudhury, Sirazum Mubin;
Balasubramanian, Sabapathy Prakash;
Howlett, Trevor A;
Robinson, Bruce G;
Gimenez-Roqueplo, Anne-Paule;
Castinetti, Frederic;
Vestergaard, Peter;
Frank-Raue, Karin

Publication type:

journal article

Prospective Genetic Screening in Multiple Endocrine Neoplasia Syndromes.

Published in:

Children, 2024, v. 11, n. 8, p. 1012, doi. 10.3390/children11081012

By:

Paun, Diana;
Tilici, Dana;
Paun, Sorin;
Mirica, Alexandra

Publication type:

Article

A 4-Year-Old Boy with an Accidentally Detected Mutation in the RET Proto-Oncogene and Mutation in the Gene Encoding the Ryanodine Receptor1 (RyR1)—Case Report.

Published in:

Children, 2023, v. 10, n. 12, p. 1916, doi. 10.3390/children10121916

By:

Mierzwa, Magdalena;
Blaska, Małgorzata;
Hamm, Marek;
Czarniecka, Agnieszka;
Krajewska, Jolanta;
Taczanowska-Niemczuk, Anna;
Zachurzok, Agnieszka

Publication type:

Article

Psychosocial Characteristics and Experiences in Patients with Multiple Endocrine Neoplasia Type 2 (MEN2) and Medullary Thyroid Carcinoma (MTC).

Published in:

Children, 2022, v. 9, n. 6, p. 774, doi. 10.3390/children9060774

By:

Lockridge, Robin;
Bedoya, Sima;
Allen, Taryn;
Widemann, Brigitte C.;
Akshintala, Srivandana;
Glod, John;
Wiener, Lori

Publication type:

Article

Reconstruction of Full Thickness Ala Defect with Nasolabial Fold and Septal Mucosal Hinge Flap.

Published in:

Archives of Craniofacial Surgery, 2014, v. 15, n. 3, p. 133, doi. 10.7181/acfs.2014.15.3.133

By:

Hye Mi Yoo;
Kyoung Suk Lee;
Jun Sik Kim;
Nam Gyun Kim

Publication type:

Article

Mucosal serotonin overflow is associated with colonic stretch rather than phasic contractions.

Published in:

Neurogastroenterology & Motility, 2016, v. 28, n. 6, p. 914, doi. 10.1111/nmo.12791

By:

Patel, B. A.

Publication type:

Article

"Genetic tumor syndromes of the head and neck: Update in the genomic era".

Published in:

Neuroradiology Journal, 2025, v. 38, n. 3, p. 277, doi. 10.1177/19714009241269462

By:

Brahmbhatt, Sneh;
Agarwal, Amit;
Shetty, Dhruv;
Desai, Amit;
Bhatt, Alok A

Publication type:

Article

Mutation screening of RET proto-oncogene in a family with medullary thyroid carcinoma, marfanoid habitus and pheochromocytoma; from clinically MEN2B to genetically MEN2A syndrome.

Published in:

2012

By:

Hasani-Ranjbar, Shirin;
Amoli, Mahsa

Publication type:

Letter