Works about APERT syndrome

Results: 208

Intra-operative hypoglycemia and electrolyte imbalance in a child with Apert syndrome during craniosynostosis surgery.

Published in:

Pediatric Anesthesia, 2014, v. 24, n. 3, p. 352, doi. 10.1111/pan.12344

By:

Hochhold, Christoph;
Luckner, Günter;
Strohmenger, Ulrich;
Scholl ‐ Bürgi, Sabine;
Paal, Peter

Publication type:

Article

Síndrome de Pfeiffer tipo 2. Informe de un caso y revisión de la literatura.

Published in:

Acta Pediatrica de Mexico, 2013, v. 34, n. 1, p. 43

By:

Roldán-Arce, Jorge;
Villarroel-Cortés, Camilo

Publication type:

Article

Síndrome de Kabuki. Informe de un caso.

Published in:

Acta Pediatrica de Mexico, 2006, v. 27, n. 6, p. 349

By:

Avina-Fierro, Jorge Arturo;
Perez-Ornelas, Nestor Bernardo

Publication type:

Article

Síndrome de Apert con agenesia renal, ¿una rara asociación?

Published in:

Revista Mexicana de Pediatria, 2014, v. 81, n. 1, p. 18

By:

Urdaneta-Carruyo, Eliéxer;
Vargas-Cobos, Yaneira;
Urdaneta-Contreras, Adriana Vanessa;
Valero Rivas, Jesús Alberto;
Alviárez Paredes, Lorena del Valle;
Contreras González, Paola Andrea

Publication type:

Article

Effects of FGFR Signaling on Cell Proliferation and Differentiation of Apert Dental Cells.

Published in:

Cells Tissues Organs, 2016, v. 201, n. 1, p. 26, doi. 10.1159/000441349

By:

Lu, Changming;
Huguley, Samuel;
Cui, Chun;
Cabaniss, Lauren B.;
Waite, Peter D.;
Sarver, David M.;
Mamaeva, Olga a.;
MacDougall, Mary

Publication type:

Article

Orthodontic and orthognathic management of a patient with Apert syndrome: a case report.

Published in:

2010

By:

Verdonck, Anna;
Bertrand, Julie;
Carels, Carine;
Swinnen, Steven;
Schoenaers, Joseph

Publication type:

Case Study

CRANIOSYNOSTOSIS: ACROCEPHALOSYNDACTYLY (APERT SYNDROME) DIAGNOSED IN A NEWBORN.

Published in:

2017

By:

Stomnaroska, Orhideja;
Danilovski, Dragan;
Ivanovska, Sanja

Publication type:

Case Study

Apert Syndrome Presenting with Omphalocele.

Published in:

Journal of Krishna Institute of Medical Sciences (JKIMSU), 2019, v. 8, n. 1, p. 95

By:

Swarnkar, Keerti;
Gaikwad, Sarika;
Uke, Punam;
Vagha, Keta;
Dalal, Yash

Publication type:

Article

Apert syndrome with glucose-6-phosphate dehydrogenase deficiency: a case report.

Published in:

International Journal of Paediatric Dentistry, 2006, v. 16, n. 3, p. 218, doi. 10.1111/j.1365-263X.2006.00696.x

By:

TOSUN, G.;
SENER, Y.

Publication type:

Article

Withdrawal of Continuous Positive Airway Pressure Therapy after Malar Advancement and Le Fort II Distraction in a Case of Apert Syndrome with Obstructive Sleep Apnea.

Published in:

Case Reports in Otolaryngology, 2015, v. 2015, p. 1, doi. 10.1155/2015/125023

By:

Onda, Nobuto;
Chiba, Shintaro;
Moriwaki, Hiroto;
Sawai, Rika;
Yoshigoe, Akira;
Watanabe, Subaru;
Ando, Yuji;
Uchida, Ryo;
Miyawaki, Takeshi;
Wada, Kota

Publication type:

Article

Apert sendromu: Olgu Sunumu.

Published in:

Perinatal Journal / Perinatoloji Dergisi, 2012, v. 20, n. 1, p. 30, doi. 10.2399/prn.12.0201003

By:

Alanbay, İbrahim;
Çoksüer, Hakan;
Karaşahin, Emre;
Ercan, Mutlu;
Keskin, Uğur;
Temel Ceyhan, Seyit;
Başer, İskender

Publication type:

Article

Perifascial areolar tissue grafting for treating syndactyly with bone fusion in patients with Apert syndrome.

Published in:

Journal of Plastic Surgery & Hand Surgery (Taylor & Francis Ltd), 2016, v. 50, n. 1, p. 40, doi. 10.3109/2000656X.2015.1071260

By:

Miyanaga, Toru;
Shimada, Kenichi;
Kishibe, Miyuki;
Daizo, Haruhisa;
Komuro, Akito

Publication type:

Article

Orthognathic surgery in patients with craniofacial syndrome. I. A 5-year overview of combined orthodontic and surgical correction.

Published in:

Journal of Plastic Surgery & Hand Surgery (Taylor & Francis Ltd), 2010, v. 44, n. 6, p. 282, doi. 10.3109/2000656X.2010.516594

By:

Kahnberg, Karl-Erik;
Hagberg, Catharina

Publication type:

Article

Anesthetic Management of Patient for Case with Apert Syndrome.

Published in:

Medical Bulletin of Haseki / Haseki Tip Bulteni, 2018, v. 56, n. 2, p. 162, doi. 10.4274/haseki.96967

By:

Küçükosman, Gamze;
Aydın, Bengü Gülhan;
Aktaş, Bahar;
Ayoğlu, Hilal

Publication type:

Article

A Case of Pfeiffer Syndrome Type 1.

Published in:

2010

By:

Karaman, Ali;
Laloğlu, Fuat;
Kahveci, Hasan;
Arslan, Remzi

Publication type:

Case Study

SOME PSYCHO-SOCIAL PROBLEMS ASSOCIATED WITH FACIAL DEFORMITIES.

Published in:

American Sociological Review, 1951, v. 16, n. 5, p. 629, doi. 10.2307/2087355

By:

MACGREGOR, FRANCES COOKE

Publication type:

Article

Dynamic morphological changes in the skulls of mice mimicking human Apert syndrome resulting from gain-of-function mutation of FGFR2 (P253R).

Published in:

Journal of Anatomy, 2010, v. 217, n. 2, p. 97, doi. 10.1111/j.1469-7580.2010.01248.x

By:

Xiaolan Du;
Tujun Weng;
Qidi Sun;
Nan Su;
Zhi Chen;
Huabing Qi;
Ming Jin;
Liangjun Yin;
Qifen He;
Lin Chen

Publication type:

Article

Apert syndrome: clinical and radiographic features and case report.

Published in:

Revista Odonto Ciencia, 2011, v. 26, n. 1, p. 96, doi. 10.1590/S1980-65232011000100021

By:

Varoli, Felipe Paes;
Santos, Karina Cecília Panelli;
Costa, Claudio;
Oliveira, Jefferson Xavier

Publication type:

Article

An Exploration of the Cognitive, Physical and Psychosocial Development of Children with Apert Syndrome.

Published in:

International Journal of Disability, Development & Education, 2017, v. 64, n. 2, p. 198, doi. 10.1080/1034912X.2016.1194379

By:

Hilton, Caroline

Publication type:

Article

Effects of multisensory yoga on behavior in a male child with Apert and Asperger syndrome.

Published in:

International Journal of Yoga, 2016, v. 9, n. 1, p. 81, doi. 10.4103/0973-6131.171716

By:

Scroggins, Michaela L.;
Litchke, Lyn G.;
Ting Liu

Publication type:

Article

Unraveling the transcriptional regulation of TWIST1 in limb development.

Published in:

PLoS Genetics, 2018, v. 14, n. 10, p. 1, doi. 10.1371/journal.pgen.1007738

By:

Hirsch, Naama;
Eshel, Reut;
Bar Yaacov, Reut;
Shahar, Tal;
Shmulevich, Fania;
Dahan, Idit;
Levaot, Noam;
Kaplan, Tommy;
Lupiáñez, Darío G.;
Birnbaum, Ramon Y.

Publication type:

Article

Analysis of Intracranial Volume in Apert Syndrome Genotypes.

Published in:

Pediatric Neurosurgery, 2004, v. 40, n. 4, p. 161, doi. 10.1159/000081933

By:

Anderson, Peter J.;
Netherway, David J.;
Abbott, Amanda H.;
Cox, Timothy;
Roscioli, Tony;
David, David J.

Publication type:

Article

Ruptured Intracranial Mycotic Aneurysm: An Unusual Infectious Complication following Craniofacial Surgery.

Published in:

Pediatric Neurosurgery, 2001, v. 35, n. 2, p. 94, doi. 10.1159/000050397

By:

Uchiyama, Christopher M.;
Brockmeyer, Douglas L.;
Cherny, W. Bruce;
Jacobs, John J.;
Walker, Marion L.

Publication type:

Article

Cellular evidence for selfish spermatogonial selection in aged human testes.

Published in:

Andrology, 2014, v. 2, n. 3, p. 304, doi. 10.1111/j.2047-2927.2013.00175.x

By:

Maher, G. J.;
Goriely, A.;
Wilkie, A. O. M.

Publication type:

Article

APERT SYNDROME (ACROCEPHALOSYNDACTYLY).

Published in:

2012

By:

Mouli, P. E. Chandra;
Kumar, T. Selva

Publication type:

Case Study

Severe persistent pulmonary hypertension of the newborn and dysmorphic features in neonate with a deletion involving TWIST1 and PHF14: a case report.

Published in:

2017

By:

Schinagl, Carina;
Melum, Guro;
Rødningen, Olaug;
Bjørgo, Kathrine;
Andresen, Jannicke;
Melum, Guro Reinholt;
Rødningen, Olaug Kristin;
Bjørgo, Kathrine;
Andresen, Jannicke Hanne

Publication type:

journal article

FGFR2 splice site mutations in Crouzon and Pfeiffer syndromes: two novel variants.

Published in:

Clinical Genetics, 2016, v. 89, n. 6, p. 746, doi. 10.1111/cge.12705

By:

Apra, C.;
Collet, C.;
Arnaud, E.;
Di Rocco, F.

Publication type:

Article

Non-invasive prenatal diagnosis for single gene disorders: experience of patients.

Published in:

Clinical Genetics, 2014, v. 85, n. 4, p. 336, doi. 10.1111/cge.12179

By:

Lewis, C.;
Hill, M.;
Chitty, L.S.

Publication type:

Article

Cancer drugs to treat birth defects.

Published in:

Nature Genetics, 2007, v. 39, n. 9, p. 1057, doi. 10.1038/ng0907-1057

By:

Wilkie, Andrew O. M.

Publication type:

Article

The Ups and Downs of Mutation Frequencies during Aging Can Account for the Apert Syndrome Paternal Age Effect.

Published in:

PLoS Genetics, 2009, v. 5, n. 7, p. 1, doi. 10.1371/journal.pgen.1000558

By:

Song-Ro Yoon;
Jian Qin;
Glaser, Rivka L.;
Ethylin Wang Jabs;
Wexler, Nancy S.;
Sokol, Rebecca;
Arnheim, Norman;
Calabrese, Peter

Publication type:

Article

Pfeiffer syndrome: literature review of prenatal sonographic findings and genetic diagnosis.

Published in:

2017

By:

Giancotti, Antonella;
D’Ambrosio, Valentina;
Marchionni, Enrica;
Squarcella, Antonia;
Aliberti, Camilla;
La Torre, Renato;
Manganaro, Lucia;
Pizzuti, Antonio;
D'Ambrosio, Valentina;
PECRAM Study Group*

Publication type:

journal article

Ultrasound diagnosis of tracheal cartilaginous sleeve in a patient with Pfeiffer syndrome.

Published in:

2018

By:

Wanner, Matthew R.;
Marine, Megan B.;
Dahl, John P.

Publication type:

journal article

Ultrasound and MR imaging findings in prenatal diagnosis of craniosynostosis syndromes.

Published in:

2016

By:

Rubio, Eva;
Blask, Anna;
Bulas, Dorothy;
Rubio, Eva I;
Bulas, Dorothy I

Publication type:

journal article

Prenatal diagnosis of Pfeiffer syndrome prior to 20 weeks' gestation.

Published in:

Journal of Obstetrics & Gynaecology, 2013, v. 33, n. 3, p. 309, doi. 10.3109/01443615.2012.753424

By:

Gómez-Gómez, J. L.;
Fernández-Alonso, A. M.;
Moreno-Ortega, I.;
Mas-Greño, L.;
Berenguel-Martínez, J.;
Fiol-Ruiz, G.

Publication type:

Article

Pfeiffer syndrome type 2 - two cases from the Pleven Registry of Congenital Anomalies.

Published in:

Paediatria Croatica, 2018, v. 62, n. 2, p. 96, doi. 10.13112/pc.500

By:

Kovacheva, Katya;
Kamburova, Zornica;
Atanasova, Victoria;
Hristov, Andrey

Publication type:

Article

The dental development in patients with Aperts syndrome.

Published in:

International Journal of Paediatric Dentistry, 2015, v. 25, n. 2, p. 136, doi. 10.1111/ipd.12114

By:

Woods, Eva;
Parekh, Susan;
Evans, Robert;
Moles, David R.;
Gill, Daljit

Publication type:

Article

Anesthetic management of craniosynostosis repair in patient with Apert syndrome.

Published in:

2014

By:

Kumar, Niraj;
Arora, Shubhangi;
Bindra, Ashish;
Goyal, Keshav

Publication type:

Case Study

Anesthetic management of a child with Apert.

Published in:

2011

By:

Metodiev, Yavor;
Gavrilova, Nadezhda;
Katzarov, Atanas

Publication type:

Case Study

Integration of Brain and Skull in Prenatal Mouse Models of Apert and Crouzon Syndromes.

Published in:

Frontiers in Human Neuroscience, 2017, p. 1, doi. 10.3389/fnhum.2017.00369

By:

Motch Perrine, Susan M.;
Stecko, Tim;
Neuberger, Thomas;
Jabs, Ethylin W.;
Ryan, Timothy M.;
Richtsmeier, Joan T.

Publication type:

Article

Generalized hyperpigmentation of skin: A case of Carpenter syndrome.

Published in:

2020

By:

Sivayogana, R.;
Suresh, D.

Publication type:

Case Study

Apert syndrome.

Published in:

2010

By:

Yaghoobi, Reza;
Bagherani, Nooshin;
Tajalli, Mahru;
Paziar, Nader

Publication type:

Case Study

Brachycephaly and syndactyly: Apert's syndrome.

Published in:

2008

By:

De, Dipankar;
Narang, Tarun;
Kanwar, Amrinder J.;
Dogra, Sunil

Publication type:

Letter

Apert 's syndrome.

Published in:

Indian Journal of Dermatology, Venereology & Leprology, 2004, v. 70, n. 2, p. 105

By:

Mukhopadhyay, Amiya Kumar;
Mukherjee, Debjani

Publication type:

Article

Cross-sectional study of epidemiology of congenital anomaly of the hand in a tertiary care centre in India over 1 year.

Published in:

Indian Journal of Plastic Surgery, 2016, v. 49, n. 3, p. 424, doi. 10.4103/0970-0358.197231

By:

Mody, Nikunj B.;
Srinivasan, Shankar;
Thatte, Mukund

Publication type:

Article

Infrared venography of the hand in Apert syndrome.

Published in:

2013

By:

Soh Nishimoto;
Kenji Fukuda;
Toshihiro Fujiwara;
Masato Kinoshita;
Kenichiro Kawai;
Masao Kakibuchi

Publication type:

Case Study

Arthrolysis of the shoulder in Apert syndrome.

Published in:

European Journal of Orthopaedic Surgery & Traumatology, 2008, v. 18, n. 2, p. 139, doi. 10.1007/s00590-007-0263-8

By:

Zafra, Manuel;
Carpintero, Pedro;
Moreno-Saiz, Marcos

Publication type:

Article

Prenatal Diagnosis of Apert Syndrome with Cloverleaf Skull Deformity Using Ultrasound, Fetal Magnetic Resonance Imaging and Genetic Analysis.

Published in:

Fetal Diagnosis & Therapy, 2010, v. 27, n. 1, p. 51, doi. 10.1159/000262447

By:

Weber, Benedikt;
Schwabegger, Anton H.;
Vodopiutz, Julia;
Janecke, Andreas R.;
Forstner, Rosemarie;
Steiner, Horst

Publication type:

Article

Apert Syndrome: The Current Role of Prenatal Ultrasound and Genetic Analysis in Diagnosis and Counselling.

Published in:

Fetal Diagnosis & Therapy, 2008, v. 24, n. 4, p. 495, doi. 10.1159/000181186

By:

Athanasiadis, A. P.;
Zafrakas, M.;
Polychronou, P.;
Florentin-Arar, L.;
Papasozomenou, P.;
Norbury, G.;
Bontis, J. N.

Publication type:

Article

Prenatal Diagnosis of Apert Syndrome.

Published in:

Fetal Diagnosis & Therapy, 2004, v. 19, n. 2, p. 127, doi. 10.1159/000075135

By:

Hansen, Wendy F.;
Rijhsinghani, Asha;
Grant, Stanley;
Yankowitz, Jerome

Publication type:

Article

Case report: Primary stabbing headache treated with melatonin in Saethre-Chotzen syndrome.

Published in:

2023

By:

Frank, Florian;
Filippi, Vera;
Kaltseis, Katharina;
Broessner, Gregor

Publication type:

Case Study