A Twist-Box domain of the C. elegans Twist homolog, HLH-8, plays a complex role in transcriptional regulation.

Authors: Gruss, Michael J.¹, O'Callaghan, Colleen¹, Donnellan, Molly¹, Corsi, Ann K.¹, corsi@cua.edu

Source: Genetics; Aug2023, Vol. 224 Issue 4, p1-17, 17p

Apert syndrome: a rare congenital anomaly and experience from a low-resource country: a case report and review of the literature

Authors: Maimuna Abdatam, Charles John Nhungo, Frank Muhamba, Ally Hamis Mwanga, Larry Akoko, Charles A. Mkony

Source: Journal of Rare Diseases, Vol 4, Iss 1, Pp 1-5 (2025)

Subject Terms: Apert syndrome, Syndactyly, Craniosynostosis, Acrocephalosyndactyly, Specialties of internal medicine, RC581-951

File Description: electronic resource

Relation: https://doaj.org/toc/2731-085X

Access URL: https://doaj.org/article/2e5296ea29934fb39d0010c0cdacd694

Cleft Palate in Apert Syndrome: A Descriptive Study of Incidence and Surgical Outcome.

Authors: Andiné, Alicia, Tarnow, Peter, Boivie, Patrik

Source: Cleft Palate Craniofacial Journal; Dec2024, Vol. 61 Issue 12, p2061-2066, 6p

Subject Terms: APERT syndrome, ACADEMIC medical centers, TREATMENT effectiveness, RETROSPECTIVE studies, DESCRIPTIVE statistics, AGE distribution, RESPIRATORY obstructions, SURGICAL complications, REOPERATION, CLEFT palate, DISEASE incidence, CRITICAL care medicine

Geographic Terms: SWEDEN

Anesthesia for preoperative non-invasive intracranial pressure measurement in a child with Apert syndrome: a case report.

Authors: Brandao Machado, Luciano^1,2 lucbrandao23@gmail.com, Madeira Brandao, Michele¹, Ferro, Andre¹, Sawakuchi Minei, Tales Shinji¹, Nogueira Gualberto, Igor José¹, Alonso, Nivaldo^1,2

Source: Archives of Pediatric Neurosurgery. 2024, Vol. 6 Issue 1, p1-4. 4p.

Subject Terms: *INTRACRANIAL pressure, *APERT syndrome, *ANESTHESIA, *CRANIOSYNOSTOSES, *PREOPERATIVE care, *OPTICAL coherence tomography, *CHILD patients

Testicular time bomb.

Authors: Le Page, Michael

Source: New Scientist. 2/22/2014, Vol. 221 Issue 2957, p46-49. 4p.

Subjects: SPERMATOZOA, GENETIC mutation, HUMAN stem cells, APERT syndrome, GORIELY, Anne, WILKIE, Andrew

Posterior Cranial Distraction in Craniosynostosis: A Systematic Review of the Literature.

Authors: Khansa, Ibrahim, Drapeau, Annie I., Pearson, Gregory D.

Source: Cleft Palate Craniofacial Journal; Aug2024, Vol. 61 Issue 8, p1302-1307, 6p

Subject Terms: APERT syndrome, MUSCULOSKELETAL system diseases, TREATMENT effectiveness, DESCRIPTIVE statistics, SURGICAL complications, SYSTEMATIC reviews, MEDLINE, OPERATIVE surgery, CRANIOSYNOSTOSES, BONE lengthening (Orthopedics), ONLINE information services, SKULL, CRANIOFACIAL abnormalities

Webplasty using an external fixator for complex syndactyly caused by Apert syndrome

Authors: Kinoda, Akira ^{a, ⁎⁎}, Sato, Kazuki ^{a, ⁎}, Iwamoto, Takuji ^b, Matsumura, Noboru ^b, Suzuki, Taku ^b, Kiyota, Yasuhiro ^b, Kimura, Takeshi ^a, Nakamura, Toshiyasu ^c

Source: In Journal of Orthopaedic Science March 2025 30(2):302-306

Isografting of full-thickness skin to treat syndactyly in monozygotic twins with Apert syndrome: a case report.

Authors: Ji-Young Kim¹, Sunkyu Park¹, Byung Jun Kim¹ bjkim79@gmail.com

Source: Archives of Hand & Microsurgery. Mar2023, Vol. 28 Issue 1, p39-42. 4p.

Subject Terms: *APERT syndrome, *SKIN grafting, *MONOZYGOTIC twins

Metabolic Bone Diseases Affecting Tooth Eruption: A Narrative Review.

Authors: Papadopoulou, Christianna Iris, Sifakakis, Iosif, Tournis, Symeon

Source: Children; Jun2024, Vol. 11 Issue 6, p748, 17p

Subject Terms: BONE metabolism, OSTEOPENIA, HYPOPARATHYROIDISM, GARDNER syndrome, BONE density, SICKLE cell anemia, APERT syndrome, ACROCEPHALOSYNDACTYLIA type II, AMELOGENESIS imperfecta, TOOTH eruption, BASAL cell nevus syndrome, HUMAN growth hormone, ECTODERMAL dysplasia, DISEASE complications, CHILDREN

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

Authors: Frank, Florian¹ f.frank@i-med.ac.at, Filippi, Vera¹, Kaltseis, Katharina¹, Broessner, Gregor¹

Source: Cephalalgia Reports. Jan-Dec2023, Vol. 6, p1-5. 5p.

Subject Terms: *PRIMARY headache disorders, *APERT syndrome, *MELATONIN, *FACIAL abnormalities, *INDOMETHACIN

Apert syndrome in a newborn with premature fusion of skull bones, a rostral nose, and cleft palate: A case report

Authors: Navid Faraji, Rasoul Goli, Reza Atharifar, Noushin Shahmirza

Source: Clinical Case Reports, Vol 12, Iss 8, Pp n/a-n/a (2024)

Subject Terms: Apert syndrome, case report, genetic disorder, neonate, Medicine, Medicine (General), R5-920

File Description: electronic resource

Relation: https://doaj.org/toc/2050-0904

Access URL: https://doaj.org/article/e18049ea88dd45e68c6a5e30b57c54e5

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

Alternate Title: Pfeifferov sindrom tip 2 - dva slučaja u Registru prirođenih anomalija u Plevenu, Bugarska.

Authors: Kovacheva, Katya¹ katiakovach@gmail.com, Kamburova, Zornica¹, Atanasova, Victoria¹, Hristov, Andrey¹

Source: Paediatria Croatica. Apr-Jun2018, Vol. 62 Issue 2, p96-100. 5p.

Subject Terms: *APERT syndrome, *KLEEBLATTSCHADEL syndrome, *PRENATAL diagnosis, *CONGENITAL disorders, *CRANIOSYNOSTOSES

Destabilization of the TWIST1/E12 complex dimerization following the R154P point-mutation of TWIST1: an in silico approach.

Authors: Bouard, Charlotte^1,2,3,4,5, Terreux, Raphael^6,7,8, Tissier, Agnès^1,2,3,4,5, Jacqueroud, Laurent^1,2,3,4,5, Vigneron, Arnaud^1,2,3,4,5, Ansieau, Stéphane^1,2,3,4,5, Puisieux, Alain^{1,2,3,4,5,6,9}, Payen, Léa^{1,2,3,4,5,6,10} lea.payen-gay@univ-lyon1.fr

Source: BMC Structural Biology. 5/18/2017, p1-15. 15p. 1 Chart, 5 Graphs.

Subject Terms: *APERT syndrome, *POINT mutation (Biology), *DIMERIZATION, *TRANSCRIPTION factors, *MOLECULAR dynamics

OP-07 Prenatal diagnosis of Pfeiffer Syndrome case report.

Authors: Öcal, Aydın¹, Tekin, Sinem¹

Source: Perinatal Journal. 2023 Supplement, Vol. 31, p5-5. 1/2p.

Subject Terms: *APERT syndrome, *PRENATAL diagnosis, *KLEEBLATTSCHADEL syndrome, *ULTRASONIC imaging, *EXOPHTHALMOS

Preprocedural Electrophysiological Monitoring in Craniofacial Surgery for a Patient with Chiari Malformation.

Authors: Tucker, Alexander M., Madsen, Peter J., Coyle, Anne M., King, Hunter, Zahner, Cristina, Lang, Shih-Shan, Taylor, Jesse A., Heuer, Gregory G.

Source: Cleft Palate Craniofacial Journal; Apr2024, Vol. 61 Issue 4, p712-716, 5p

Subject Terms: TRANSPLANTATION of organs, tissues, etc., APERT syndrome, SOMATOSENSORY evoked potentials, EVOKED potentials (Electrophysiology), MAGNETIC resonance imaging, PREOPERATIVE care, TREATMENT effectiveness, ARNOLD-Chiari deformity, INTRAOPERATIVE monitoring, SURGICAL complications, PEDIATRICS, CRANIOSYNOSTOSES, INTENSIVE care units, PLASTIC surgery, CRANIOFACIAL abnormalities, CEREBELLUM, PULMONARY arterial hypertension, ELECTROPHYSIOLOGY, SKULL surgery

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

Authors: Miyanaga, Toru¹ (AUTHOR) miyanaga@kanazawa-med.ac.jp, Shimada, Kenichi¹ (AUTHOR), Kishibe, Miyuki¹ (AUTHOR), Daizo, Haruhisa¹ (AUTHOR), Komuro, Akito¹ (AUTHOR)

Source: Journal of Plastic Surgery & Hand Surgery (Taylor & Francis Ltd). Feb2016, Vol. 50 Issue 1, p40-43. 4p.

Subject Terms: *APERT syndrome, *CONNECTIVE tissues, *TRANSPLANTATION of organs, tissues, etc., *SPINAL fusion, *THERAPEUTICS, HAND anatomy

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.

Authors: Onda, Nobuto¹ n-onda@jikei.ac.jp, Chiba, Shintaro¹ s.chiba@ota-sleep.com, Moriwaki, Hiroto¹ hiromoriwaki@jikei.ac.jp, Sawai, Rika¹ sawai.r@jikei.ac.jp, Yoshigoe, Akira¹ akirashadow0601@yahoo.co.jp, Watanabe, Subaru¹ subaru.w@ota-sleep.com, Ando, Yuji¹ andoh.ent@gmail.com, Uchida, Ryo¹ ucchi@qb3.so-net.ne.jp, Miyawaki, Takeshi² caritakm@jikei.ac.jp, Wada, Kota³ wadakota@med.toho-u.ac.jp

Source: Case Reports in Otolaryngology. 9/14/2015, Vol. 2015, p1-4. 4p.

Subject Terms: *CONTINUOUS positive airway pressure, *APERT syndrome, *HUMAN abnormalities, *MAXILLOFACIAL surgery, *SLEEP apnea syndromes, *CRANIOFACIAL dysostosis, *DYSPLASIA

Unraveling the transcriptional regulation of TWIST1 in limb development.

Authors: Hirsch, Naama^1,2, Eshel, Reut^1,2, Bar Yaacov, Reut^1,2, Shahar, Tal^1,2, Shmulevich, Fania^1,2, Dahan, Idit^1,2, Levaot, Noam³, Kaplan, Tommy⁴, Lupiáñez, Darío G.^5,6,7, Birnbaum, Ramon Y.^1,2, ramonb@bgu.ac.il

Source: PLoS Genetics; 10/29/2018, Vol. 14 Issue 10, p1-20, 20p

Cranial Morphology Associated With Syndromic Craniosynostosis: A Potential Detection of Abnormality in Patient's Cranial Growth Using Angular Statistics.

Authors: Zulkipli, Nur Syahirah, Satari, Siti Zanariah, Hariri, Firdaus, Abdullah, Norli Anida, Wan Yusoff, Wan Nur Syahidah, Hussin, Abdul Ghapor

Source: Cleft Palate Craniofacial Journal; Nov2023, Vol. 60 Issue 11, p1484-1493, 10p

Subject Terms: SKULL radiography, CHILD development deviations -- Risk factors, SKULL, APERT syndrome, ACADEMIC medical centers, CONFIDENCE intervals, CRANIOFACIAL dysostosis, RISK assessment, RESEARCH funding, DESCRIPTIVE statistics, COMPUTED tomography, DATA analysis software, CHILD development deviations, DISEASE complications

Geographic Terms: MALAYSIA

Apert Syndrome: Report of a rare congenital malformation.

Authors: Rathore, Ehsan¹ surgrathore@gmail.com, Rathore, Altaf Hussain²

Source: Pakistan Journal of Medical Sciences. May/Jun2017, Vol. 33 Issue 3, p773-775. 3p.

Subject Terms: *APERT syndrome, *SERVICES for people with disabilities, *FACIAL abnormalities, *HUMAN abnormalities, *PATIENTS, *THERAPEUTICS