Works matching Phakomatoses

Results: 348

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

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

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

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

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

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

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

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

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

Neurocutaneous disorders: phakomatoses and hamarto-neoplastic syndromes.

Published in:

2008

By:

Martínez-Lage, J. F.

Publication type:

Book Review

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

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

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

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

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

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

The Anesthetic Approach in a Patient with Type I Neurofibromatosis with Multiple Deformities.

Published in:

Turkish Journal of Medical Sciences, 2008, v. 38, n. 5, p. 477

By:

Inan, Nurten;
Başar, Hülya;
Türkoğlu, Müge;
Güleç, Handan;
Tezer, Esma;
Baltaci, Bülent

Publication type:

Article

Solitary malignant schwannoma of the nasal cavity and paranasal sinuses: Report of two rare cases.

Published in:

ENT: Ear, Nose & Throat Journal, 2003, v. 82, n. 8, p. 634, doi. 10.1177/014556130308200822

By:

Mannan, A.A.S. Rifat;
Singh, Manoj Kumar;
Sharma, Mehar Chand;
Bahadur, Sudhir;
Hatimota, Pradeep

Publication type:

Article

Orbitotemporal Neurofibromatosis: Classification and Treatment.

Published in:

Orbit, 2007, v. 26, n. 4, p. 223, doi. 10.1080/01676830600987227

By:

Erb, Melanie H.;
Uzcategui, Nicolas;
See, Robert F.;
Burnstine, Michael A.

Publication type:

Article

Phakomatous choristoma of the orbit.

Published in:

Orbit, 1998, v. 17, n. 1, p. 47, doi. 10.1076/orbi.17.1.47.7948

By:

Peres, Luiz Cesar;
da Silva, Alfredo Ribeiro;
Belluci, Angela Delete;
Cruz, Antonio A.V.

Publication type:

Article

Glomus tumours in the long finger and in the thumb of a young patient with neurofibromatosis-1 (Nf-1).

Published in:

Journal of Plastic Surgery & Hand Surgery (Taylor & Francis Ltd), 2013, v. 47, n. 3, p. 238, doi. 10.3109/2000656X.2012.754624

By:

Dahlin, Lars B.;
Müller, Gunilla;
Anagnostaki, Lola;
Nordborg, Karin

Publication type:

Article

Phacomatosis Cesioflammea Associated with Pectus Excavatum.

Published in:

2009

By:

Ching-Ying Wu;
Po-Hung Chen;
Gwo-Shing Chen

Publication type:

Letter

Phacomatosis Pigmentokeratotica (Happle) in a 23-Year-Old Man.

Published in:

Acta Dermato-Venereologica, 2002, v. 82, n. 1, p. 55, doi. 10.1080/000155502753600911

By:

Wollenberg, Andreas;
Butnaru, Cristina;
Oppel, Tilmann

Publication type:

Article

Congenital Triangular Alopecia in Phakomatosis Pigmentovascularis: Report of 3 Cases.

Published in:

Acta Dermato-Venereologica, 2000, v. 80, n. 3, p. 215, doi. 10.1080/000155500750043041

By:

Kim, Hee Joong;
Park, Ki Beom;
Yang, Jun Mo;
Park, Soo Hong;
Lee, Eil Soo

Publication type:

Article

Tuberous Sclerosis Complex: Perioperative Considerations.

Published in:

2014

By:

Rabito, Matthew J.;
Kaye, David

Publication type:

Case Study

Two Hyperplastic Esophagogastric Polyps in a Child with Neurofibromatosis Type 1 (NF-1).

Published in:

Pediatric & Developmental Pathology, 2008, v. 11, n. 3, p. 235, doi. 10.2350/07-04-0266.1

By:

Grynspan, David;
Lukacik, Marek;
Madani, Shailender;
Poulik, Janet

Publication type:

Article

Sudden, Unexpected Death Associated with Meningioangiomatosis: Case Report.

Published in:

Pediatric & Developmental Pathology, 2005, v. 8, n. 2, p. 240, doi. 10.1007/s10024-004-9105-4

By:

Wixom, Chris;
Chadwick, Amy E.;
Kgoush, Henry F.

Publication type:

Article

Hamartoma Involving the Pseudarthrosis Site in Patients With Neurofibromatosis Type 1.

Published in:

Pediatric & Developmental Pathology, 2005, v. 8, n. 2, p. 190, doi. 10.1007/s10024-004-1004-1

By:

Mariaud-Schmidt, Rocio P.;
Rosales-quintana, Sergi;
Emilio Bitar;
Fajardo, Daniel;
Chiapa-robles, Gilberto;
Gonzalez-mendoza, Amado;
Barros-nunez, Patrici

Publication type:

Article

Management strategies in neurofibromatosis type 2.

Published in:

European Archives of Oto-Rhino-Laryngology, 2003, v. 260, n. 1, p. 12, doi. 10.1007/s00405-002-0503-9

By:

Moffat, David A.;
Quaranta, Nicola;
Baguley, David M.;
Hardy, David G.;
Chang, Phillip

Publication type:

Article

A Tuber-ful Animal Model of Tuberous Sclerosis At Last?

Published in:

Epilepsy Currents, 2012, v. 12, n. 1, p. 15, doi. 10.5698/1535-7511-12.1.15

By:

Michael Wong

Publication type:

Article

Phacomatoses, genetic testing for personalisation of clinical management (part 2).

Published in:

Nowotwory, 2022, v. 72, n. 1, p. 58, doi. 10.5603/NJO.2022.0007

By:

Kofla-Dłubacz, Anna;
Stawarski, Andrzej;
Pytrus, Tomasz;
Gil, Justyna

Publication type:

Article

Phacomatoses, genetic testing for personalisation of clinical management (part 1.).

Published in:

Nowotwory, 2021, v. 71, n. 6, p. 420, doi. 10.5603/NJO.2021.0075

By:

Kofla-Dłubacz, Anna;
Stawarski, Andrzej;
Pytrus, Tomasz;
Gil, Justyna

Publication type:

Article

Determining the zone of reflection for posterior corneal surface comparison phakometry.

Published in:

Ophthalmic & Physiological Optics, 2009, v. 29, n. 1, p. 99, doi. 10.1111/j.1475-1313.2008.00597.x

By:

Carkeet, Andrew

Publication type:

Article

Phacomatosis pigmentokeratotica or the Schimmelpenning-Feuerstein-Mims syndrome?

Published in:

Clinical Case Reports, 2016, v. 4, n. 6, p. 564, doi. 10.1002/ccr3.570

By:

Gamayunov, Boris N.;
Korotkiy, Nikolay G.;
Baranova, Elena E.

Publication type:

Article

DERMATOLOGICAL EXAMINATION OF FAMILY MEMBERS FOR THE DIAGNOSIS OF NF1.

Published in:

2015

By:

Bonifazi, E.

Publication type:

Case Study

SEGMENTAL NEUROFIBROMATOSIS.

Published in:

2014

By:

Pisani, V.

Publication type:

Case Study

Segmental neurofibromatosis type 1. Differences between the childhood and adult form.

Published in:

European Journal of Pediatric Dermatology, 2012, v. 22, n. 4, p. 257

By:

Pisani, V.;
Caniglia, A.;
Bonifazi, E.

Publication type:

Article

PHAKOMATOSIS PIGMENTO-VASCULARIS.

Published in:

2011

By:

Garofalo, L.

Publication type:

Case Study

Phakomatosis pigmento-vascularis type IIb consisting of generalized Mongolian spot associated with Klippel-Trenaunay syndrome.

Published in:

European Journal of Pediatric Dermatology, 2010, v. 20, n. 4, p. 243

By:

Zhang, R.;
Zhu, W.

Publication type:

Article

Towards precision medicine in vascular anomalies: Could protein kinase C inhibitors be repurposed for GNAQ/11‐related phakomatoses?

Published in:

Skin Research & Technology, 2024, v. 30, n. 6, p. 1, doi. 10.1111/srt.13736

By:

Gu, Yaron;
Pham, James P.;
Sebaratnam, Deshan F.

Publication type:

Article