Works matching DE "APERT syndrome"

Results: 208

Alterations in Sphenoid Anatomy in Craniosynostosis: Implications for Fronto-Orbital Advancement.

Published in:

Cleft Palate Craniofacial Journal, 2025, v. 62, n. 7, p. 1241, doi. 10.1177/10556656241245514

By:

Santiago, Gaia;
Santiago, Chiara;
Nguyen, Alvin;
Choudhary, Akriti;
Zhao, Linping;
Alkureishi, Lee W.T.;
Patel, Pravin K.;
Purnell, Chad A.

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

Fetal Hand Anomalies: 18 Cases Diagnosed Between 2020-2022 from a Single Tertiary Care Center.

Published in:

Experimed, 2022, v. 12, n. 3, p. 149, doi. 10.26650/experimed.1188882

By:

Aslanger, Ayça Dilruba;
Sivrikoz, Tugba Sarac;
Kalayci, Tugba;
Basaran, Seher;
Uyguner, Oya

Publication type:

Article

Vital endowments: Sir Charles Bell and the history of some congenital abnormalities of the upper limb.

Published in:

ANZ Journal of Surgery, 2011, v. 81, n. 12, p. 900, doi. 10.1111/j.1445-2197.2011.05756.x

By:

Thurston, Alan

Publication type:

Article

ANZSCMFS (Craniomaxillofacial Surgery) Program Abstracts.

Published in:: ANZ Journal of Surgery, 2011, v. 81, p. A7, doi. 10.1111/j.1445-2197.2011.05728.x
Publication type:: Article

Apert Sendromu ve Atriyal Septal Defekt Birlikteliği.

Published in:

Journal of Academic Research in Medicine, 2016, v. 6, n. 1, p. 26, doi. 10.5152/jarem.2016.896

By:

Dervişoğlu, Pınar;
Kösecik, Mustafa;
Kumbasar, Serkan;
Salman, Süleyman;
Şık, Bulat Aytek;
Erdem, Baki;
Tekin, Bülent

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

Q289P mutation in the FGFR2 gene: first report in a patient with type 1 Pfeiffer syndrome.

Published in:

2009

By:

Piccione, Maria;
Antona, Vincenzo;
Niceta, Marcello;
Fabiano, Carmelo;
Martines, Manuela;
Bianchi, Alberto;
Corsello, Giovanni

Publication type:

journal article

APERT SYNDROME (ACROCEPHALOSYNDACTYLY).

Published in:

2012

By:

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

Publication type:

Case Study

Farklı mutasyonlar taşıyan Apert sendromlu iki olgu: erken tanının önemi.

Published in:

Türk Pediatri Arşivi, 2017, v. 52, n. 4, p. 231, doi. 10.5152/TurkPediatriArs.2016.3305

By:

Işık, Esra;
Atik, Tahir;
Onay, Hüseyin;
Özkınay, Ferda

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

Management of juvenile ossifying fibroma of the mandible in a patient with Apert syndrome: a case report.

Published in:

Oral Surgery (1752-2471), 2011, v. 4, n. 2, p. 86, doi. 10.1111/j.1752-248X.2011.01116.x

By:

Pattni, N.;
Sidhu, K.K.;
Rodd, H.D.;
Speight, P.M.;
Yates, J.M.

Publication type:

Article

Congenital constriction ring syndrome of the limbs: A prospective study of 16 cases.

Published in:

African Journal of Paediatric Surgery, 2008, v. 5, n. 2, p. 79, doi. 10.4103/0189-6725.44182

By:

Adu, Emmanuel J. K.;
Annan, Charles

Publication type:

Article

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

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

Apert Syndrome with Fused Thalami.

Published in:

Fetal & Pediatric Pathology, 2012, v. 31, n. 6, p. 410, doi. 10.3109/15513815.2012.659407

By:

Ludwig, Kathrin;
Salmaso, Roberto;
Manara, Renzo;
Cosmi, Erich;
Baldi, Maurizia;
Rugge, Massimo

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

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

Oral features in Apert syndrome: a histological investigation.

Published in:

Orthodontics & Craniofacial Research, 2010, v. 13, n. 1, p. 61, doi. 10.1111/j.1601-6343.2009.01478.x

By:

Surman, T. L.;
Logan, R. M.;
Townsend, G. C.;
Anderson, P. J.

Publication type:

Article

Syndromic craniosynostosis: from history to hydrogen bonds.

Published in:

2007

By:

Cunningham, M. L.;
Seto, M. L.;
Ratisoontorn, C.;
Heike, C. L.;
Hing, A. V.;
Cunningham, Machael L;
Seto, Marianne L;
Ratisoontorn, Chootima;
Heike, Carrie L;
Hing, Anne V

Publication type:

journal article

Radiographic Manifestations in Pfeiffer Syndrome.

Published in:

Arthritis & Rheumatology, 2015, v. 67, n. 8, p. 2282, doi. 10.1002/art.39156

By:

Al‐Adba, Buthaina;
Tse, Shirley M. L.

Publication type:

Article

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

Clinical and radiographic presentation and preparation of the prototyping model for pre-surgical planning in Apert's syndrome.

Published in:

Dentomaxillofacial Radiology, 2006, v. 35, n. 2, p. 119, doi. 10.1259/dmfr/77056158

By:

Sannomiya, E. K.;
Reis, S. A. B.;
Asaumi, J.;
Silva, J. V. L.;
Barbara, A. S.;
Kishi, K.

Publication type:

Article

A longitudinal study of dental arch morphology in children with the syndrome of Crouzon or Apert.

Published in:

European Journal of Oral Sciences, 2013, v. 121, n. 4, p. 319, doi. 10.1111/eos.12051

By:

Reitsma, Jacobus H.;
Elmi, Poejan;
Ongkosuwito, Edwin M.;
Buschang, Peter H.;
Prahl‐Andersen, Birte

Publication type:

Article

Inhibited Wnt Signaling Causes Age-Dependent Abnormalities in the Bone Matrix Mineralization in the Apert Syndrome FGFR2<sup>S252W/+</sup> Mice.

Published in:

PLoS ONE, 2015, v. 10, n. 2, p. 1, doi. 10.1371/journal.pone.0112716

By:

Zhang, Li;
Chen, Peng;
Chen, Lin;
Weng, Tujun;
Zhang, Shichang;
Zhou, Xia;
Zhang, Bo;
Liu, Luchuan

Publication type:

Article

A Ser252Trp Mutation in Fibroblast Growth Factor Receptor 2 (FGFR2) Mimicking Human Apert Syndrome Reveals an Essential Role for FGF Signaling in the Regulation of Endochondral Bone Formation.

Published in:

PLoS ONE, 2014, v. 9, n. 1, p. 1, doi. 10.1371/journal.pone.0087311

By:

Chen, Peng;
Zhang, Li;
Weng, Tujun;
Zhang, Shichang;
Sun, Shijin;
Chang, Mingtao;
Li, Yang;
Zhang, Bo;
Zhang, Lianyang

Publication type:

Article

Novel Molecular Pathways Elicited by Mutant FGFR2 May Account for Brain Abnormalities in Apert Syndrome.

Published in:

PLoS ONE, 2013, v. 8, n. 4, p. 1, doi. 10.1371/journal.pone.0060439

By:

Yeh, Erika;
Fanganiello, Roberto D.;
Sunaga, Daniele Y.;
Zhou, Xueyan;
Holmes, Gregory;
Rocha, Katia M.;
Alonso, Nivaldo;
Matushita, Hamilton;
Wang, Yingli;
Jabs, Ethylin W.;
Passos-Bueno, Maria Rita

Publication type:

Article

Selfish Spermatogonial Selection: Evidence from an Immunohistochemical Screen in Testes of Elderly Men.

Published in:

PLoS ONE, 2012, v. 7, n. 8, p. 1, doi. 10.1371/journal.pone.0042382

By:

Lim, Jasmine;
Maher, Geoffrey J.;
Turner, Gareth D. H.;
Dudka-Ruszkowska, Wioleta;
Taylor, Stephen;
Meyts, Ewa Rajpert-De;
Goriely, Anne;
Wilkie, Andrew O. M.;
Shipley, Janet

Publication type:

Article

FGF/FGFR Signaling Coordinates Skull Development by Modulating Magnitude of Morphological Integration: Evidence from Apert Syndrome Mouse Models.

Published in:

PLoS ONE, 2011, v. 6, n. 10, p. 1, doi. 10.1371/journal.pone.0026425

By:

Martínez-Abadías, Neus;
Heuzé, Yann;
Yingli Wang;
Jabs, Ethylin Wang;
Aldridge, Kristina;
Richtsmeier, Joan T.

Publication type:

Article

A Newly Described Bovine Type 2 Scurs Syndrome Segregates with a Frame-Shift Mutation in TWIST1.

Published in:

PLoS ONE, 2011, v. 6, n. 7, p. 1, doi. 10.1371/journal.pone.0022242

By:

Capitan, Aurélien;
Grohs, Cécile;
Weiss, Bernard;
Rossignol, Marie-Noëlle;
Reversé, Patrick;
Eggen, André

Publication type:

Article

A Procedure for Designing Custom-Made Implants for Forehead Augmentation in People Suffering from Apert Syndrome.

Published in:

Journal of Medical Systems, 2020, v. 44, n. 9, p. N.PAG, doi. 10.1007/s10916-020-01611-9

By:

Mandolini, Marco;
Caragiuli, Manila;
Brunzini, Agnese;
Mazzoli, Alida;
Pagnoni, Mario

Publication type:

Article

Acne-associated syndromes: models for better understanding of acne pathogenesis.

Published in:

Journal of the European Academy of Dermatology & Venereology, 2011, v. 25, n. 6, p. 637, doi. 10.1111/j.1468-3083.2010.03937.x

By:

Chen, W.;
Obermayer-Pietsch, B.;
Hong, J.-B.;
Melnik, B. C.;
Yamasaki, O.;
Dessinioti, C.;
Ju, Q.;
Liakou, A. I.;
Al-Khuzaei, S.;
Katsambas, A.;
Ring, J.;
Zouboulis, C. C.

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

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

Fetal brain MRI in Apert syndrome: early in vivo detection of temporal lobe malformation.

Published in:

2018

By:

Quintas-Neves, Miguel;
Soares-Fernandes, João Paulo

Publication type:

Letter to the Editor

Prenatal diagnosis of Apert syndrome using ultrasound, magnetic resonance imaging, and three-dimensional virtual/physical models: three case series and literature review.

Published in:

2018

By:

Werner, Heron;
Castro, Pedro;
Daltro, Pedro;
Lopes, Jorge;
Ribeiro, Gerson;
Araujo Júnior, Edward

Publication type:

Case Study

A child with Apert syndrome and Sturge-Weber syndrome: could fibronectin or the RAS/MAPK signaling pathway be the connection?

Published in:

Child's Nervous System, 2018, v. 34, n. 6, p. 1247, doi. 10.1007/s00381-018-3758-1

By:

Tan, Ai Peng;
Chong, Wui Khean

Publication type:

Article

Apert syndrome: magnetic resonance imaging (MRI) of associated intracranial anomalies.

Published in:

Child's Nervous System, 2018, v. 34, n. 2, p. 205, doi. 10.1007/s00381-017-3670-0

By:

Tan, Ai Peng;
Mankad, Kshitij

Publication type:

Article

Central nervous system and cervical spine abnormalities in Apert syndrome.

Published in:

Child's Nervous System, 2016, v. 32, n. 5, p. 833, doi. 10.1007/s00381-016-3036-z

By:

Breik, Omar;
Mahindu, Antony;
Moore, Mark;
Molloy, Cindy;
Santoreneos, Stephen;
David, David

Publication type:

Article

Perception of children's faces with unilateral coronal synostosis-an eye-tracking investigation.

Published in:

Child's Nervous System, 2016, v. 32, n. 1, p. 135, doi. 10.1007/s00381-015-2798-z

By:

Linz, Christian;
Gerdes, Antje;
Meyer-Marcotty, Philipp;
Müller-Richter, Urs;
Böhm, Hartmut;
Ernestus, Ralf-Ingo;
Kübler, Alexander;
Alpers, Georg;
Schweitzer, Tilmann

Publication type:

Article

Atypical presentation of a newborn with Apert syndrome.

Published in:

Child's Nervous System, 2015, v. 31, n. 3, p. 481, doi. 10.1007/s00381-014-2601-6

By:

Spruijt, B.;
Rijken, B.;
Joosten, K.;
Bredero-Boelhouwer, H.;
Pullens, B.;
Lequin, M.;
Wolvius, E.;
Veelen-Vincent, M.;
Mathijssen, I.

Publication type:

Article

Comparison of ultrasound and magnetic resonance imaging in the prenatal diagnosis of Apert syndrome: report of a case.

Published in:

Child's Nervous System, 2014, v. 30, n. 8, p. 1445, doi. 10.1007/s00381-014-2377-8

By:

Giancotti, A.;
D'Ambrosio, V.;
Filippis, A.;
Aliberti, C.;
Pasquali, G.;
Bernardo, S.;
Manganaro, L.

Publication type:

Article

Bilateral lambdoid and posterior sagittal craniosynostosis-management, evolution, and outcome.

Published in:

2013

By:

Pillai, Shibu;
Cochrane, D.;
Singhal, A.;
Steinbok, Paul

Publication type:

Report