Works matching Phakomatoses

Results: 351

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

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

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

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

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

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

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

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

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

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

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

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

Neurocutaneous disorders: phakomatoses and hamarto-neoplastic syndromes.

Published in:

2008

By:

Martínez-Lage, J. F.

Publication type:

Book Review

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

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

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

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

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

The tuberous sclerosis complex genes in tumor development.

Published in:

2004

By:

Mak, Baldwin C.;
Yeung, Raymond S.

Publication type:

journal article

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

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

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

Ruptured Popliteal Aneurysm Resulting from Neurofibromatosis.

Published in:

Vascular & Endovascular Surgery, 2005, v. 39, n. 5, p. 449, doi. 10.1177/153857440503900511

By:

Bueno, Alicia;
Acín, Francisco;
Rodriguez, Jose M.;
March, Jose R.;
de Benito, Luis;
Fernández-Casado, Jose L.

Publication type:

Article

Behavioural, academic and neuropsychological profile of normally gifted Neurofibromatosis type 1 children.

Published in:

Journal of Intellectual Disability Research, 2005, v. 49, n. 1, p. 33, doi. 10.1111/j.1365-2788.2005.00660.x

By:

Descheemaeker, M.‐J.;
Ghesquière, P.;
Symons, H.;
Fryns, J. P.;
Legius, E.

Publication type:

Article

Neurocutaneous melanosis in association with Dandy–Walker malformation: case report and literature review.

Published in:

Clinical & Experimental Dermatology, 2008, v. 33, n. 5, p. 611, doi. 10.1111/j.1365-2230.2008.02745.x

By:

Schreml, S.;
Gruendober, B.;
Schreml, J.;
Bayer, M.;
Ladoyanni, E.;
Prantl, L.;
Eichelberg, G.

Publication type:

Article

Phacomatosis pigmentokeratotica associated with a suprasellar dermoid cyst and leg hypertrophy.

Published in:

Clinical & Experimental Dermatology, 2007, v. 32, n. 6, p. 690, doi. 10.1111/j.1365-2230.2007.02511.x

By:

Majmudar, V.;
Loffeld, A.;
Happle, R.;
Salim, A.

Publication type:

Article

Phakomatosis pigmentovascularis type II b associated with Sturge–Weber syndrome.

Published in:

2006

By:

Ajith, C.;
Narang, T.;
Kanwar, A. J.

Publication type:

Letter

Phakomatosis pigmentovascularis IIb with renal anomaly.

Published in:

Clinical & Experimental Dermatology, 2000, v. 25, n. 1, p. 51, doi. 10.1046/j.1365-2230.2000.00573.x

By:

Huang;
Lee;
Huang

Publication type:

Article

Prevalence of neurofibromatosis type 1 in congenital pseudarthrosis of the tibia.

Published in:

2016

By:

Kjell, Van;
Hilde, Brems;
Eric, Legius;
Johan, Lammens;
Armand, Laumen;
Kjell, Van Royen;
Van Royen, Kjell;
Brems, Hilde;
Legius, Eric;
Lammens, Johan;
Laumen, Armand

Publication type:

journal article

NO ABERRANT METHYLATION OF NEUROFIBROMATOSIS 1 GENE (NF1) PROMOTER IN PILOCYTIC ASTROCYTOMA IN CHILDHOOD.

Published in:

Pediatric Hematology & Oncology, 2005, v. 22, n. 1, p. 83, doi. 10.1080/08880010590896440

By:

Ebinger, M.;
Senf, L.;
Wachowski, O.;
Scheurlen, W.

Publication type:

Article

Bilateral Acoustic Neuroma with underlying Neurofibromatosis Type 2: A Therapeutic Challenge.

Published in:

Bangladesh Journal of Medical Science, 2012, v. 11, n. 4, p. 347, doi. 10.3329/bjms.v11i4.12609

By:

Mohamad, Irfan;
Alias, Azila;
Daud, Mohd Khairi M.

Publication type:

Article

Neuropeptides in cutaneous neurofibromas of Von Recklinghausen's disease.

Published in:

Journal of Cutaneous Pathology, 1990, v. 17, n. 6, p. 371, doi. 10.1111/j.1600-0560.1990.tb00114.x

By:

Vaalasti, A.;
Suomalainen, H.;
Kuokkanen, K.;
Rechardt, L.

Publication type:

Article

Angiofibromas in Tuberous Sclerosis: A Light and Electron Microscopic Study.

Published in:

Journal of Cutaneous Pathology, 1977, v. 4, n. 6, p. 300, doi. 10.1111/j.1600-0560.1977.tb00921.x

By:

Bhawan, Jag;
Edelstein, Lee

Publication type:

Article

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

Pathophysiology and management of glaucoma associated with phakomatoses.

Published in:

Journal of Neuroscience Research, 2019, v. 97, n. 1, p. 57, doi. 10.1002/jnr.24241

By:

Thavikulwat, Alisa T.;
Edward, Deepak P.;
AlDarrab, Abdulrahman;
Vajaranant, Thasarat S.

Publication type:

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

Topical sirolimus for the treatment of angiofibromas in tuberous sclerosis.

Published in:

2017

By:

Cinar, Salih Levent;
Kartal, Demet;
Bayram, Ayşe Kacar;
Canpolat, Mehmet;
Borlu, Murat;
Ferahbas, Ayten;
Per, Hüseyin

Publication type:

journal article

Phakomatosis pigmentovascularis Type IIb, Sturge-Weber syndrome and cone shaped tongue: An unusual association.

Published in:

2015

By:

Pradhan, Swetalina;
Patnaik, Satyadarshi;
Padhi, Tanmay;
Nayak, Bibhu Prasad

Publication type:

Case Study

Sturge-Weber syndrome in association with Klippel-Trenaunay syndrome and phakomatosis pigmentovascularis type IIb.

Published in:

2014

By:

Mandal, Rajesh Kumar;
Ghosh, Sudip Kumar;
Koley, Sankha;
Roy, Asit Chandra

Publication type:

Case Study

Pacinian neurofibroma: A rare neurogenic tumor.

Published in:

2011

By:

Nath, Amiya Kumar;
Timshina, Dependra Kumar;
Thappa, Devinder Mohan;
Basu, Debdatta

Publication type:

Case Study

Phacomatosis cesioflammea: First case report from India.

Published in:

2010

By:

Goyal, Tarang;
Varshney, Anupam

Publication type:

Case Study

Polyneuropathy in neurofibromatosis 2: clinical findings, molecular genetics and neuropathological alterations in sural nerve biopsy specimens.

Published in:

Acta Neuropathologica, 2002, v. 104, n. 2, p. 179, doi. 10.1007/s00401-002-0535-7

By:

Hagel, Christian;
Lindenau, Matthias;
Lamszus, Katrin;
Kluwe, Lan;
Stavrou, Dimitrios;
Mautner, Victor-Felix

Publication type:

Article

Developmental expression of the tuberous sclerosis proteins tuberin and hamartin.

Published in:

Acta Neuropathologica, 2001, v. 101, n. 3, p. 202, doi. 10.1007/s004010000269

By:

Murthy, Vanishree;
Stemmer-Rachamimov, Anat O.;
Haddad, Luciana A.;
Roy, Jennifer E.;
Cutone, Andrea N.;
Beauchamp, Roberta L.;
Smith, Nicole;
Louis, David N.;
Ramesh, Vijaya

Publication type:

Article

Simultaneous loss of hamartin and tuberin from the cerebrum, kidney and heart with tuberous sclerosis.

Published in:

Acta Neuropathologica, 2000, v. 99, n. 5, p. 503, doi. 10.1007/s004010051152

By:

Mizuguchi, M.;
Ikeda, K.;
Takashima, S.

Publication type:

Article

A case of Miller-Dieker syndrome in a family with neurofibromatosis type I.

Published in:

Acta Neuropathologica, 2000, v. 99, n. 4, p. 425, doi. 10.1007/s004010051145

By:

King, A.;
Upadhyaya, M.;
Penney, C.;
Doshi, R.

Publication type:

Article

Expression of the tuberous sclerosis complex gene products, hamartin and tuberin, in central nervous system tissues.

Published in:

Acta Neuropathologica, 2000, v. 99, n. 3, p. 223, doi. 10.1007/PL00007431

By:

Gutmann, D. H.;
Zhang, Y.;
Hasbani, M. J.;
Goldberg, M. P.;
Plank, T. L.;
Petri Henske, E.

Publication type:

Article