Works matching Phakomatoses

Results: 350

Current concepts on ocular vascular abnormalities in the phakomatoses.

Published in:

Seminars in Ophthalmology, 2021, v. 36, n. 7, p. 549, doi. 10.1080/08820538.2021.1900284

By:

de Paula, Alessandro;
Abdolrahimzadeh, Solmaz;
Fragiotta, Serena;
Di Pippo, Mariachiara;
Scuderi, Gianluca

Publication type:

Article

NEUROIMAGING IN PEDIATRIC PHAKOMATOSES. AN EDUCATIONAL REVIEW.

Published in:

Clujul Medical, 2016, v. 89, n. 1, p. 56, doi. 10.15386/cjmed-417

By:

RAUS, IULIAN;
COROIU, ROXANA ELENA;
CAPUSAN, COSMIN SERBAN

Publication type:

Article

FAKOMATOZE.

Published in:

Pedijatrija Danas: Pediatrics Today, 2008, v. 4, n. 1, p. 33

By:

Peterlin, Borut;
Medica, Igor

Publication type:

Article

Phakomatoses and cutaneous manifestations associated with moyamoya disease and syndrome.

Published in:

Advances in Dermatology & Allergology / Postępy Dermatologii i Alergologii, 2020, v. 37, n. 6, p. 831, doi. 10.5114/ada.2020.102092

By:

Tomaszewska, Maja;
Strzelczuk-Judka, Lidia;
Ostalska-Nowicka, Danuta;
Jończyk-Potoczna, Katarzyna

Publication type:

Article

Neuroimaging of phakomatoses: overview and advances.

Published in:

Pediatric Radiology, 2015, v. 45, p. 433, doi. 10.1007/s00247-015-3282-3

By:

Vézina, Gilbert

Publication type:

Article

The Phakomatoses (Book).

Published in:

1973

By:

Rook, Arthur

Publication type:

Book Review

Multiple phakomatoses and primary open-angle glaucoma in one individual.

Published in:

2020

By:

Mitra, Arijit;
Chaudhury, Debarpita;
Choudhury, Sumit;
Sar, Suchanda;
Ghosh, Smita

Publication type:

Case Study

National Cancer Institute Workshop Report: the phakomatoses revisited.

Published in:

2000

By:

Tucker, Margaret;
Goldstein, Alisa;
Tucker, M;
Goldstein, A;
Dean, M;
Knudson, A

Publication type:

journal article

RECENT ADVANCES IN THE PHAKOMATOSES.

Published in:

International Journal of Dermatology, 1978, v. 17, n. 1, p. 1, doi. 10.1111/j.1365-4362.1978.tb06038.x

By:

Person, John R.;
Perry, Harold O.

Publication type:

Article

A review of the role of ultrasound biomicroscopy in glaucoma associated with rare diseases of the anterior segment.

Published in:

Clinical Ophthalmology, 2016, v. 10, p. 1453, doi. 10.2147/OPTH.S112166

By:

Mannino, Giuseppe;
Abdolrahimzadeh, Barmak;
Calafiore, Silvia;
Anselmi, Gianmario;
Mannino, Cristina;
Lambiase, Alessandro

Publication type:

Article

Gorlin-Goltz Syndrome - Case Report of a Rare Phakomatoses.

Published in:

2024

By:

Nair, Shalini;
Kuruvila, Vikas Alias;
Mahaboob, Shahnaz;
Mathew, Jobin;
Vincent, Christeena;
P. A., Sabeena

Publication type:

Case Study

An Update on the Ophthalmologic Features in the Phakomatoses.

Published in:

Journal of Ophthalmology, 2016, p. 1, doi. 10.1155/2016/3043026

By:

Abdolrahimzadeh, Solmaz;
Plateroti, Andrea Maria;
Recupero, Santi Maria;
Lambiase, Alessandro

Publication type:

Article

Phakomatoses and Endocrine Gland Tumors: Noteworthy and (Not so) Rare Associations.

Published in:

Frontiers in Endocrinology, 2021, v. 11, p. N.PAG, doi. 10.3389/fendo.2021.678869

By:

Chevalier, Benjamin;
Dupuis, Hippolyte;
Jannin, Arnaud;
Lemaitre, Madleen;
Do Cao, Christine;
Cardot-Bauters, Catherine;
Espiard, Stéphanie;
Vantyghem, Marie Christine

Publication type:

Article

The tuberous sclerosis complex genes in tumor development.

Published in:

2004

By:

Mak, Baldwin C.;
Yeung, Raymond S.

Publication type:

journal article

Multi-segmental neurofibromatosis.

Published in:

Indian Journal of Dermatology, Venereology & Leprology, 2004, v. 70, n. 6, p. 361

By:

Kumar, Sudhir;
Kumar, Ravi P.

Publication type:

Article

Role of cortical sparing adrenalectomy and novel variant of mutation in patient with von Hippel-- Lindau disease.

Published in:

2011

By:

Boaz, Ranil Johann;
Ramakant, Pooja;
Ebenazer, Andrew;
Pai, Rekha;
Rajaratnam, Simon;
Abraham, Deepak;
Paul, M. J.

Publication type:

Case Study

Phakomatoses: A pictorial review.

Published in:

Indian Journal of Radiology & Imaging, 2020, v. 30, n. 2, p. 195, doi. 10.4103/ijri.IJRI_497_19

By:

Swarup, M;
Gupta, Swati;
Singh, Sapna;
Prakash, Anjali;
Mehndiratta, Anurag;
Garg, Anju

Publication type:

Article

Genome-wide screening of mouse knockouts reveals novel genes required for normal integumentary and oculocutaneous structure and function.

Published in:

Scientific Reports, 2019, v. 9, n. 1, p. N.PAG, doi. 10.1038/s41598-019-47286-2

By:

Moore, Bret A.;
Flenniken, Ann M.;
Clary, Dave;
Moshiri, Ata S.;
Nutter, Lauryl M. J.;
Berberovic, Zorana;
Owen, Celeste;
Newbigging, Susan;
Adissu, Hibret;
Eskandarian, Mohammad;
McKerlie, Colin;
Thomasy, Sara M.;
Lloyd, K. C. Kent;
Murphy, Christopher J.;
Moshiri, Ala

Publication type:

Article

Aspekty neuropsychiatryczne i neuropsychologiczne zespołu Jadassohna -- przegląd piśmiennictwa i opis przypadku.

Published in:

Neuropsychiatry & Neuropsychology / Neuropsychiatria i Neuropsychologia, 2012, v. 7, n. 2, p. 97

By:

Świeca, Karol;
Jaracz, Jan;
Raczkowiak, Lucyna;
Rybakowski, Janusz

Publication type:

Article

Sturge-Weber syndrome.

Published in:

Journal of Medical & Allied Sciences, 2014, v. 4, n. 2, p. 88

By:

Siddeswari, Ravala;
Manohar, Siddula;
Abhilash, Thatikala

Publication type:

Article

Neurocutaneous disorders: phakomatoses and hamarto-neoplastic syndromes.

Published in:

2008

By:

Martínez-Lage, J. F.

Publication type:

Book Review

Leptomeningeal Enhancement and Enlarged Choroid Plexus Simulating the Appearance of Sturge–Weber Disease in a Child with Tuberous Sclerosis.

Published in:

2005

By:

Kremer, Stephane;
Schmitt, Emmanuelle;
Klein, Olivier;
Vignal, Jean P.;
Moret, Christiane;
Kahane, Philippe;
Arzimanoglou, Alexis

Publication type:

Letter

Radiological assessment of neurocutaneous disorders: application of new imaging techniques.

Published in:

British Journal of Dermatology, 1987, v. 117, p. 42, doi. 10.1111/j.1365-2133.1987.tb12038.x

By:

Barker, J.N.W.N.;
Gaines, P.A.;
MacDonald, L.M.;
MacDonald, D.M.

Publication type:

Article

Ophthalmic manifestations of tuberous sclerosis: a review.

Published in:

Clinical & Experimental Ophthalmology, 2017, v. 45, n. 1, p. 81, doi. 10.1111/ceo.12806

By:

Hodgson, Nickisa;
Kinori, Michael;
Goldbaum, Michael H;
Robbins, Shira L

Publication type:

Article

Pediatric brain MRI in neurofibromatosis type I.

Published in:

2005

By:

Mentzel, Hans-J.;
Seidel, Jörg;
Fitzek, Clemens;
Eichhorn, Annegret;
Vogt, Susanna;
Reichenbach, Jürgen R.;
Zintl, Felix;
Kaiser, Werner A.;
Seidel, Jörg;
Reichenbach, Jürgen R

Publication type:

journal article

Perioperative management of children with congenital phakomatoses.

Published in:

Pediatric Anesthesia, 2000, v. 10, n. 2, p. 121, doi. 10.1046/j.1460-9592.2000.00429.x

By:

Diaz, James H.

Publication type:

Article

The Salvage of Graft Occlusion in a Maintenance Hemodialysis Patient with Tuberous Sclerosis by Percutaneous Transluminal Angioplasty using Intravascular Ultrasound: Case Report.

Published in:

Therapeutic Apheresis & Dialysis, 2004, v. 8, n. 2, p. 164, doi. 10.1111/j.1526-0968.2003.00123.x

By:

Higuchi, Terumi;
Abe, Masanori;
Okada, Kazuyoshi;
Nakajima, Yoshiko;
Ohnishi, Yoshihiko;
Hagi, Chihiro;
Fukuda, Noboru;
Kuno, Tsutomu;
Takahashi, Susumu;
Saito, Satoshi;
Nagura, Yuji;
Matsumoto, Koichi

Publication type:

Article

First use of patient reported outcomes measurement information system (PROMIS) measures in adults with neurofibromatosis.

Published in:

Journal of Neuro-Oncology, 2017, v. 131, n. 2, p. 413, doi. 10.1007/s11060-016-2314-7

By:

Talaei-Khoei, Mojtaba;
Riklin, Eric;
Merker, Vanessa;
Sheridan, Monica;
Jordan, Justin;
Plotkin, Scott;
Vranceanu, Ana-Maria

Publication type:

Article

Gamma Knife radiosurgery for neurofibromatosis type 2-associated meningiomas: a 22-year patient series.

Published in:

Journal of Neuro-Oncology, 2016, v. 130, n. 3, p. 553, doi. 10.1007/s11060-016-2257-z

By:

Birckhead, Brandon;
Sio, Terence;
Pollock, Bruce;
Link, Michael;
Laack, Nadia

Publication type:

Article

Benign whole body tumor volume is a risk factor for malignant peripheral nerve sheath tumors in neurofibromatosis type 1.

Published in:

Journal of Neuro-Oncology, 2014, v. 116, n. 2, p. 307, doi. 10.1007/s11060-013-1293-1

By:

Nguyen, Rosa;
Jett, Kimberly;
Harris, Gordon;
Cai, Wenli;
Friedman, Jan;
Mautner, Victor-Felix

Publication type:

Article

Constitutional NF1 mutations in neurofibromatosis 1 patients with malignant peripheral nerve sheath tumors(Communicated by Mark H. Paalman)Online Citation: Human Mutation, Mutation in Brief #664 (2003) Online http://www.interscience.wiley.com/humanmutation/pdf/mutation/664.pdf)

Published in:

Human Mutation, 2003, v. 22, n. 5, p. 420, doi. 10.1002/humu.9193

By:

Lan Kluwe;
Reinhard E. Friedrich;
Matthias Peiper;
Jan Friedman;
Victor-F. Mautner

Publication type:

Article

Incidence of Nerve Tumor Degeneration in von Recklinghausen's Neurofibromatosis.

Published in:

Journal of Dermatologic Surgery & Oncology, 1988, v. 14, n. 4, p. 408

By:

Felman, Yehljdj M.

Publication type:

Article

Dermabrasion for the Management of Angiofibromas in Tuberous Sclerosis.

Published in:

Journal of Dermatologic Surgery & Oncology, 1982, v. 8, n. 11, p. 984, doi. 10.1111/j.1524-4725.1982.tb01080.x

By:

Menon, Padman A.

Publication type:

Article

Clinicopathological and immunohistochemical findings in an autopsy case of tuberous sclerosis complex.

Published in:

Neuropathology, 2008, v. 28, n. 6, p. 577, doi. 10.1111/j.1440-1789.2008.00920.x

By:

Boer, Karin;
Troost, Dirk;
Jansen, Floor;
Nellist, Mark;
van den Ouweland, Ans M.W.;
Geurts, Jeroen J. G.;
Spliet, Wim G.M.;
Crino, Peter;
Aronica, Eleonora

Publication type:

Article

How common is tuberous sclerosis complex?

Published in:

British Journal of Dermatology, 2016, v. 174, n. 6, p. 1184, doi. 10.1111/bjd.14592

By:

Morrison, P.J.;
Donnelly, D.E.

Publication type:

Article

Phakomatosis pigmentokeratotica associated with hypophosphataemic vitamin D-resistant rickets: improvement in phosphate homeostasis after partial laser ablation.

Published in:

British Journal of Dermatology, 2003, v. 148, n. 5, p. 1074, doi. 10.1046/j.1365-2133.2003.05273.x

By:

Saraswat, A.;
Dogra, S.;
Bansali, A.;
Kumar, B.

Publication type:

Article

Phacomatosis pigmentovascularis type IIa successfully treated with two types of laser therapy.

Published in:

British Journal of Dermatology, 2000, v. 142, n. 2, p. 358, doi. 10.1046/j.1365-2133.2000.03309.x

By:

Ono, I.;
Tateshita, T.

Publication type:

Article

Bilateral segmental neurofibromatosis with partial unilateral lentiginosis.

Published in:

British Journal of Dermatology, 1997, v. 136, n. 3, p. 380, doi. 10.1111/j.1365-2133.1997.tb14949.x

By:

Wong, S. S.

Publication type:

Article

BRAF V600E and KRAS G12S mutations in peripheral nerve sheath tumours.

Published in:

Histopathology, 2013, v. 62, n. 3, p. 499, doi. 10.1111/his.12021

By:

Serrano, César;
Simonetti, Sara;
Hernández‐Losa, Javier;
Valverde, Claudia;
Carrato, Cristina;
Bagué, Silvia;
Orellana, Ruth;
Somoza, Rosa;
Moliné, Teresa;
Carles, Joan;
Huguet, Pere;
Romagosa, Cleofé;
Ramón y Cajal, Santiago

Publication type:

Article

Pleomorphic xanthoastrocytoma in a case of tuberous sclerosis.

Published in:

2014

By:

Martin, Arvind G.;
Singh, Mutum Samarendra;
Idris, Badrisyah;
Abdullah, Jafri Malin

Publication type:

Case Study

A patient with Marfan's syndrome and neurofibromatosis type 1 with polyneuropathy.

Published in:

European Journal of Neurology, 2004, v. 11, n. 9, p. 641, doi. 10.1111/j.1468-1331.2004.00913.x

By:

Hartlappa, I.;
Bühring, U.;
Dichgans, J.;
Isenmanna, S.

Publication type:

Article

The natural history of subependymal giant cell astrocytomas in tuberous sclerosis complex: a review.

Published in:

Reviews in the Neurosciences, 2018, v. 29, n. 3, p. 295, doi. 10.1515/revneuro-2017-0027

By:

Chan, Denise L.;
Calder, Tessa;
Lawson, John A.;
Mowat, David;
Kennedy, Sean E.

Publication type:

Article

A 13-year-old girl with neurofibromatosis-1, scoliosis.

Published in:

2004

By:

Listernick, Robert

Publication type:

journal article

Bone mineral density in children with neurofibromatosis 1.

Published in:

2007

By:

Yilmaz, Kutluhan;
Ozmen, Meral;
Bora Goksan, Suleyman;
Eskiyurt, Nurten

Publication type:

journal article

Case 3: Fetal intracardiac tumour – A feature of a genetic disease?

Published in:

Acta Paediatrica, 2006, v. 95, n. 6, p. 760, doi. 10.1080/08035250500499473

By:

Misirlioğlu, Emine Dibek;
Aliefendioğlu, Didem;
Alpan, Nursel;
Güven, Alev;
Peltek, Nur

Publication type:

Article

Neurofibromatosis 2 and Neurilemmomatosis Gene Are Identical.

Published in:

Journal of Investigative Dermatology, 1995, v. 104, n. 1, p. 74, doi. 10.1111/1523-1747.ep12613537

By:

Honda, Mariko;
Arai, Eiko;
Sawada, Schunichi;
Ohta, Arihito;
Niimura, Michihito

Publication type:

Article

A Computed Image Analyzing System for Quantitation of Melanocyte Morphology in Café-au-Lait Macules of Neurofibromatosis.

Published in:

Journal of Investigative Dermatology, 1987, v. 88, n. 3, p. 287, doi. 10.1111/1523-1747.ep12466155

By:

Ishida, Osamu;
Jimbow, Kowichi

Publication type:

Article

Primary Jejunal Malignant Mixed Tumor in a Patient with von Recklinghausen Neurofibromatosis.

Published in:

American Journal of Gastroenterology (Springer Nature), 1996, v. 91, n. 4, p. 795

By:

Miyoshi, Lidia Mine;
Tamiya, Sadafumi;
Iida, Mitsuo;
Hizawa, Kazuoki;
Yao, Takashi;
Tsuneyoshi, Masazumi;
Takesue, Masaharu;
Fujishima, Masatoshi

Publication type:

Article

NEURINOMA DEL ACÚSTICO DIAGNOSTICADO DURANTE EL EMBARAZO. REPORTE DE UN CASO.

Published in:

Revista Chilena de Obstetricia y Ginecología, 2009, v. 74, n. 3, p. 194, doi. 10.4067/S0717-75262009000300010

By:

José Urdaneta, M.;
Nasser Baabel, Z.;
Alfi de Jesús Contreras, B.

Publication type:

Article

Fatal spontaneous haemorrhage in Von Recklinghausen's disease.

Published in:

Surgical Practice, 2006, v. 10, n. 1, p. 38, doi. 10.1111/j.1744-1633.2006.00284.x

By:

Chi-Sum Tsang;
Tze-Ching Tan;
Chak-Lam Chan, Alexander;
Fung-Ching Cheung

Publication type:

Article