Works matching Phakomatoses

Results: 84

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

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

FAKOMATOZE.

Published in:

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

By:

Peterlin, Borut;
Medica, Igor

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

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

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

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

Neurocutaneous, phakomatoses, and hamartoneoplastic syndromes: Mnemonic.

Published in:

Medical Journal of Dr. D.Y. Patil Vidyapeeth, 2020, v. 13, n. 3, p. 292, doi. 10.4103/mjdrdypu.mjdrdypu_286_19

By:

Rissardo, Jamir;
Caprara, Ana

Publication type:

Article

Unusual case of phakomatosis pigmentovascularis in a Japanese female infant associated with three phakomatoses: Port-wine stain, dermal melanocytosis and cutis marmorata telangiectatica congenita.

Published in:

Journal of Dermatology (John Wiley & Sons, Inc.), 2015, v. 42, n. 10, p. 1006, doi. 10.1111/1346-8138.13000

By:

Shimizu, Nami;
Nakagawa, Koichi;
Taguchi, Mari;
Okabayashi, Aya;
Kishida, Masaru;
Kinoshita, Rie;
Imanishi, Hisayoshi;
Fukai, Kazuyoshi;
Tsuruta, Daisuke

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

ANNEX Phakomatoses.

Published in:: Acta Ophthalmologica (1755375X), 1982, v. 60, p. 28, doi. 10.1111/j.1755-3768.1982.tb02573.x
Publication type:: 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

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

The phakomatoses as paracrine growth disorders (paracrinopathies).

Published in:

Clinical Genetics, 1990, v. 37, n. 2, p. 97, doi. 10.1111/j.1399-0004.1990.tb03485.x

By:

Kousseff, Boris G.

Publication type:

Article

Intracranial cavernoma and speckled lentiginous nevus: extending the spectrum of phakomatoses?

Published in:

Neurological Sciences, 2010, v. 31, n. 6, p. 841, doi. 10.1007/s10072-010-0401-7

By:

Boncoraglio, Giorgio B.;
Parati, Eugenio A.;
Ciceri, Elisa;
Rinaldi, Rosa;
Capella, Giovanni L.

Publication type:

Article

The Phakomatoses (Book).

Published in:

1973

By:

Rook, Arthur

Publication type:

Book Review

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

Neurocutaneous disorders: phakomatoses and hamarto-neoplastic syndromes.

Published in:

2008

By:

Martínez-Lage, J. F.

Publication type:

Book Review

Sturge Weber Syndrome: A Case Study.

Published in:

Journal of Clinical & Diagnostic Research, 2017, v. 11, n. 5, p. 12, doi. 10.7860/JCDR/2017/25593.9891

By:

NEERUPAKAM, MAHESH;
REDDY, PODDUTURI SANJAY;
BABU, BEERABOINA ANAND;
KRISHNA, GUTTIKONDA VAMSI

Publication type:

Article

Tuberöse-Sklerose-Komplex.

Published in:

Die Radiologie, 2022, v. 62, n. 12, p. 1058, doi. 10.1007/s00117-022-01053-z

By:

Glutig, Katja;
Husain, Ralf;
Renz, Diane;
John-Kroegel, Ulrike;
Mentzel, Hans-Joachim

Publication type:

Article

Intracranial lipomatous hamartomas (Intracranial 'lipomas').

Published in:

Acta Neuropathologica, 1974, v. 28, n. 3, p. 205, doi. 10.1007/BF00719025

By:

Budka, Herbert

Publication type:

Article

Neurocutaneous Diseases: Diagnosis, Management, and Treatment.

Published in:

Journal of Clinical Medicine, 2024, v. 13, n. 6, p. 1648, doi. 10.3390/jcm13061648

By:

Kioutchoukova, Ivelina;
Foster, Devon;
Thakkar, Rajvi;
Ciesla, Christopher;
Cabassa, Jake Salvatore;
Strouse, Jacob;
Kurz, Hayley;
Lucke-Wold, Brandon

Publication type:

Article

Early Genetic Diagnosis of Neurofibromatosis Type 2 From Skin Plaque Plexiform Schwannomas in Childhood.

Published in:

2018

By:

Castellanos, Elisabeth;
Plana, Adrià;
Carrato, Cristina;
Carrió, Meritxell;
Rosas, Inma;
Amilibia, Emilio;
Roca-Ribas, Francesc;
Hostalot, Cristina;
Castillo, Alicia;
Ros, Andrea;
Quer, Ariadna;
Becerra, Juan Luis;
Salvador, Hector;
Lázaro, Conxi;
Blanco, Ignacio;
Serra, Eduard;
Bielsa, Isabel;
for CSUR Phakomatoses Multidisciplinary Clinics HUGTiP-ICO-IGTP;
Plana, Adrià;
Carrió, Meritxell

Publication type:

journal article

Intracranial variant of encephalotrigeminal angiomatosis - A case report.

Published in:

Indian Journal of Dental Research, 2019, v. 30, n. 6, p. 978, doi. 10.4103/ijdr.IJDR_517_17

By:

Mohan, N.;
Karthik, R.;
Fenn, Saramma Mathew;
Ravikumar, P. T.;
Subbulakshmi, A. Cicilia

Publication type:

Article

Von-Hippel-Lindau-Syndrom.

Published in:

Der Radiologe, 2013, v. 53, n. 12, p. 1104, doi. 10.1007/s00117-013-2606-2

By:

Reith, W.;
Körner, H.

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

Sturge Weber syndrome.

Published in:

Nepal Journal of Neuroscience, 2019, v. 16, n. 2, p. 46, doi. 10.3126/njn.v16i2.25954

By:

Roka, Yam Bahadur

Publication type:

Article

Fakomatözler İle Birlikte Olan Retinopatiler; Patofizyoloji, Bulgular, Tanı ve Tedavi (Von Hippel-Lindau Hastalığı, Tuberoskleroz, Nörofibromatozis).

Published in:

Current Retina Journal / Güncel Retina Dergisi, 2021, v. 5, n. 3, p. 279

By:

Ava, Sedat

Publication type:

Article

Retinal microvascular abnormalities overlying choroidal nodules in neurofibromatosis type 1.

Published in:

BMC Ophthalmology, 2014, v. 14, n. 1, p. 1, doi. 10.1186/1471-2415-14-146

By:

Abdolrahimzadeh, Solmaz;
Felli, Lorenzo;
Piraino, Domenica Carmen;
Mollo, Roberto;
Calvieri, Stefano;
Recupero, Santi Maria

Publication type:

Article

Atypical unilateral exudative retinal detachment in a child affected by tuberous sclerosis.

Published in:

European Journal of Ophthalmology, 2022, v. 32, n. 1, p. NP181, doi. 10.1177/1120672120980950

By:

Coppola, Michele;
Cavallotti, Barbara;
Suzani, Martina;
Marchese, Alessandro;
Bandello, Francesco

Publication type:

Article

Brief psychotic disorder associated with Sturge–Weber syndrome

Published in:

2005

By:

Kalaitzi, C.K.;
Sakkas, D.

Publication type:

Letter

Tuberöse Sklerose.

Published in:

Der Radiologe, 2013, v. 53, n. 12, p. 1091, doi. 10.1007/s00117-013-2553-y

By:

Yilmaz, U.;
Altmeyer, K.;
Meyer, S.

Publication type:

Article

Pulsating Enophthalmos as an Initial Symptom of Neurofibromatosis Type 1.

Published in:

Beyoglu Eye Journal, 2025, v. 10, n. 1, p. 46, doi. 10.14744/bej.2025.33341

By:

Ceb, Aslihan Yilmaz;
Oto, Bilge Batu;
Kilicarslan, Oguzhan;
Sarici, Ahmet Murat

Publication type:

Article

Familial multiple endocrine neoplasia syndromes: components, classification, and nomenclature.

Published in:

1998

By:

Carney;
Carney, J. Aidan;
Carney, J A

Publication type:

journal article

Rare Diseases Leading to Childhood Glaucoma: Epidemiology, Pathophysiogenesis, and Management.

Published in:

2015

By:

Abdolrahimzadeh, Solmaz;
Fameli, Valeria;
Mollo, Roberto;
Contestabile, Maria Teresa;
Perdicchi, Andrea;
Recupero, Santi Maria

Publication type:

journal 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

Neurocutaneous Melanosis: A Diagnostic Challenge.

Published in:

Journal of Clinical & Diagnostic Research, 2023, v. 17, n. 1, p. 7, doi. 10.7860/JCDR/2023/58931.17396

By:

KUMAR, UMA;
JAIN, POOJA;
SINGHAL, UDITA;
TRIVEDI, SHALINI

Publication type:

Article

Sturge Weber–Like Gyral Calcification Seen in Tuberous Sclerosis Complex 1.

Published in:

Journal of Child Neurology, 2015, v. 30, n. 8, p. 1070, doi. 10.1177/0883073814542947

By:

Chatterjee, Sayan;
Mukherjee, Sharmila Banerjee;
Mendiratta, Vibhu;
Aneja, Satinder

Publication type:

Article

Dural Scalp and Intracranial Hemangiomas Causing Hydrocephalus and Venous Sinus Thrombosis in an Infant.

Published in:

Journal of Child Neurology, 2011, v. 26, n. 6, p. 777, doi. 10.1177/0883073810390694

By:

Nahed, Brian V.;
Ferreira, Manuel;
Babu, Maya A.;
Terry, Anna R.;
Walcott, Brian P.;
Kahle, Kristopher T.;
Smith, Edward R.

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

Neurocutaneous Melanosis with Hydrocephalus and Dandy-Walker Variant.

Published in:

Asian Journal of Neurosurgery, 2021, v. 16, n. 4, p. 876, doi. 10.4103/ajns.AJNS_542_20

By:

Sarwar, Mohammad;
Tripathy, Laxminarayan;
Jain, Harsh;
Basu, Sunandan;
Sengupta, Ashvini

Publication type:

Article

Evaluation of the Child Who Convulses with Fever.

Published in:

Pediatric Drugs, 2003, v. 5, n. 7, p. 457, doi. 10.2165/00128072-200305070-00003

By:

Rosman, N. Paul

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

Near-Infrared Reflectance Imaging in Retinal Diseases Affecting Young Patients.

Published in:

Journal of Ophthalmology, 2021, p. 1, doi. 10.1155/2021/5581851

By:

Abdolrahimzadeh, Solmaz;
Ciancimino, Chiara;
Grassi, Flaminia;
Sordi, Edoardo;
Fragiotta, Serena;
Scuderi, Gianluca

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

Overlapping of Sturge-Weber Syndrome and Klippel-Trenaunay Weber Syndrome With Upper Limb Involvement.

Published in:

2016

By:

Ebrahimi, Hossein Ali;
Ebrahimi, Saeed

Publication type:

Case Study