Results 51 to 60 of about 49,164 (302)

Complex Genetic Architecture in RASopathies: Constitutional PTPN11 and Mosaic RIT1 Pathogenic Variants Underlying Severe Noonan Syndrome With Adult‐Onset Acute Myeloid Leukemia

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Noonan syndrome (NS) is a genetically heterogeneous disorder characterized by a broad spectrum of clinical features resulting from dysregulation of the RAS/MAPK pathway. Although complex genotypes are increasingly recognized in NS, cases harboring two distinct pathogenic variants in different NS genes remain extremely rare.
Francesco Prevedello, Dario Seif Ali, Chiara Piccolo, Chiara Rigon, Monica Forzan, Elena Tacchetto, Roberta Palmitessa, Davide Calosci, Leonardo Salviati, Carmela Gurrieri, Eva Trevisson   +10 more
wiley   +1 more source

Long‐Term Follow Up of Two Patients With Variants in the Cluster 1031‐1159 of TRRAP Gene: Expanding the Phenotype of Developmental Delay With or Without Dysmorphic Facies and Autism

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT The transformation/transcription domain‐associated protein (TRRAP) gene encodes a large multidomain protein, a member of the phosphatidylinositol 3‐kinase‐related kinase (PIKK) family. TRRAP is a component of the histone acetyltransferase (HAT) complex, and it plays an important role in gene transcription, DNA repair, and cell‐cycle regulation.
Roseli Maria Zechi‐Ceide, Vinicius Contrucci Dantas Segarra, Siulan Vendramini‐Pittoli, Henrique Regonaschi Serigatto, Luiza Virmond, Heloisa Marcelina da Cunha Palhares, Fernanda Jehee, Ana Cristina Victorino Krepischi, Carla Rosenberg, Carlos Henrique Paiva Grangeiro, Nancy Mizue Kokitsu‐Nakata   +10 more
wiley   +1 more source

The Normal Growth Rate of Human Fingernails in Indian Population

Indian Journal of Plastic Surgery
Background: India, with a large population working in industries, has a considerable amount of nail bed injuries day to day as well as infections and other issues with nails.
Vishnu Babu, Mohamed Ibrahim, Shyamnath Krishna Pandian K, Latha Madhavan, Anirudha N. Sharma, Krishnamoorthy R., Mukund Thatte, Anil Bhat, Sridhar K.   +8 more
doaj   +1 more source

Chondrosarcoma of the Thyroid Cartilage Successfully Treated With Partial Resection of the Thyroid Cartilage

Ear, Nose & Throat Journal, 2023
Chondrosarcoma of the thyroid cartilage is a sporadic disease with nonspecific clinical presentation. Smooth swelling of the supraglottic area should arouse suspicion of possible pathology.
Katarína Fedorová MD, Karol Zeleník MD, PhD, Martin Formánek MD, PhD, Vladimír Židlík MD, Pavel Komínek MD, PhD   +4 more
doaj   +1 more source

Computer-Navigated Contouring of Craniofacial Fibrous Dysplasia Involving the Orbit

, 2011
Virtual surgical planning and computer-aided surgery were used to treat a mono-ostotic fibrous dysplasia of the right zygoma. Mirroring of the contralateral zygoma sets the target for the contouring of the affected zygomatic bone.
Messo, Elias,, Anders Hedlund, Hirsch, Jan-Michael,, Hedlund, Anders,, Elias Messo, Jan-Michael Hirsch, Daniel Nowinski, Nowinski, Daniel,   +7 more
core   +1 more source

Clinical, Behavioral and Neuroradiological Phenotype in an Italian Cohort of Patients With Xia Gibbs Syndrome: A Multicenter Cross‐Sectional Study and Systematic Literature Review

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Heterozygous variants in the AHDC1 gene are associated with Xia Gibbs Syndrome (XGS), a genetic disorder with a highly variable phenotype. Cognitive impairment, motor delay, language delay, neonatal hypotonia, and sleep apnea are considered “cardinal” signs of the disease.
Giulia Cinelli, Stefania Della Vecchia, Patrizia Bergonzini, Elisa Caramaschi, Elisabetta Spezia, Claudia Parenti, Simona Filomena Madeo, Laura Lucaccioni, Cavalleri Francesca, Marisa Pugliese, Federico Raviglione, Clara Colonna, Olga Calabrese, Ilaria Stanghellini, Maria Carmen Marongiu, Enrico Biagioni, Anna Rita Ferrari, Roberta Battini, Lorenzo Iughetti   +18 more
wiley   +1 more source

Opitz trigonocephaly syndrome presenting with sudden unexplained death in the operating room: a case report

Journal of Medical Case Reports, 2011
Introduction Opitz trigonocephaly C syndrome (OTCS) is a rare malformation syndrome with the following features: synostosis of metopic suture, craniofacial abnormalities, severe mental retardation and a multitude of pathological findings affecting almost
Demarini Sergio, Brovedani Pierpaolo, Fabretto Antonella, Fertz Mariacristina, Pecile Vanna, Travan Laura, Opitz John M   +6 more
doaj   +1 more source

Superior Long-term Appearance of Strip Craniectomy Compared with Cranial Vault Reconstruction in Metopic Craniosynostosis

Plastic and Reconstructive Surgery, Global Open, 2022
Background:. Strip craniectomy with orthotic helmet therapy (SCOT) is an increasingly supported treatment for metopic craniosynostosis, although the long-term efficacy of deformity correction remains poorly defined.
Ryan K. Badiee, BA, BS, Emma Popowitz, Ian T. Mark, MD, Andre Alcon, MD, Joan Hwang, BA, Eve Rorison, RN, CPNP, Kurtis I. Auguste, MD, William Y. Hoffman, MD, Peter P. Sun, MD, Jason H. Pomerantz, MD   +9 more
doaj   +1 more source

Defining Features of Gabriele‐de Vries Syndrome in Adults: A Case Report and Literature Review

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Gabriele‐de Vries syndrome (GADEVS) is a neurodevelopmental disorder caused by heterozygous pathogenic variants in the YY1 gene. Like most rare genetic syndromes, the adult manifestations of GADEVS remain poorly defined. Here, we describe the oldest patient reported to date with GADEVS—a 63‐year‐old woman with a c.1177_1179del YY1 variant ...
Ethan W. Hollingsworth, Changrui Xiao
wiley   +1 more source

Cephalometric Findings in Nine Individuals With Richieri-Costa-Pereira Syndrome

, 2018
The Richieri-Costa-Pereira syndrome (RCPS) is an autosomal-recessive acrofacial dysostosis caused by mutations in EIF4A3, characterized by mandibular cleft comprising other craniofacial anomalies and limb defects such as cleft palate/Robin Sequence ...
Terumi Okada Ozawa, Ary dos Santos Pinto, Zechi-Ceide, Roseli Maria, Adriano Porto Peixoto, Roseli Maria Zechi-Ceide, Oliveira Pinto, Rayane De, Gisele da Silva Dalben, Rayane de Oliveira Pinto, Silva Dalben, Gisele Da, Peixoto, Adriano Porto, Antonio Richieri-Costa, Costa, Antonio Richieri, Ozawa, Terumi Okada, Santos Pinto, Ary Dos [UNESP]   +13 more
core   +1 more source