Results 81 to 90 of about 84,871 (291)

Crouzon’s syndrome with adenotonsillitis: conventional surgery in altered anatomy. [PDF]

, 2013
Background/Objectives: Crouzon’s syndrome is characterized by premature closure of the cranial sutures, midface hypoplasia, orbital deformities & other associated abnormalities.Children with Crouzon syndrome frequently have obstructive sleep apnea ...
Appaji, Mohan, Devi, Pinky, MK, Goutham, Naik, Sarika s, Naik, Sudhir M, S, Ravishankar, SM, Annapurna   +6 more
core   +2 more sources

Genetic Abnormalities and Clinical Management of Fetal Genitourinary System Anomalies in Eastern China

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT To investigate the correlation between genetic abnormalities and fetal genitourinary (GU) anomalies in Eastern China and to provide assistance for the clinical management of fetuses with different types of GU anomalies. Five hundred forty‐five fetuses with GU anomalies were enrolled, undergoing karyotyping, copy number variation sequencing ...
Jie Liang, Jiebin Wu, Lin Zhang, Yunmeng Qi, Yi Wang, Xu Cao, Jingfang Zhai   +6 more
wiley   +1 more source

Radiographic Investigation of The Relationship Between Dental Malocclusions And Dental Anomalies on the Turkish Population

Cumhuriyet Dental Journal, 2018
Objectives: The aim of this study was to investigate the relationship between various dental anomalies and dental malocclusions/vertical growth patterns.
Zeliha Uğur Aydın, Burak Sarıoğlu, Yasemin Nur Korkmaz   +2 more
doaj   +1 more source

The 9th International RASopathies Symposium

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT The RASopathies are a group of congenital disorders with overlapping clinical manifestations that are caused by pathogenic germline or early somatic variants that result in the hyperactivation of the RAS/mitogen‐activated protein kinase (MAPK) signaling pathway.
Pau Castel, Lisa Schoyer, Beth Stronach, Raya Bogdanova, Anton M. Bennett, Jaishri Blakeley, Miriam Bornhorst, Tammy Bowers, Saskia M. Brachmann, Emma Burkitt‐Wright, Kathryn Chatfield, Alessandro De Luca, Khalil El‐Chammas, Abdul Elkadri, John E. Fortunato, Bruce D. Gelb, Anne Goriely, Karen Gripp, Kassidy Grover, Lindsay Homan, Kenneth A. Kern, Maija Kiuru, Charles (Chuck) Lawson, Yong‐Seok Lee, Frank McCormick, Gina Ney, Cristina Nuevo‐Tapioles, Sara Pardej, Elizabeth I. Pierpont, Julia Plank, Nancy Ratner, Katherine A. Rauen, J. Elliott Robinson, Les Rogers, Sarah E. Sheppard, Keir Shiels, David Stevenson, Dagmar Tiemens, Matthew Traylor, K. Nicole Weaver, Marielle Yohe, Tamar Green   +41 more
wiley   +1 more source

STAT3-Mediated Transcriptional Regulation of Osteopontin in STAT3 Loss-of-Function Related Hyper IgE Syndrome

Frontiers in Immunology, 2018
BackgroundHyper-IgE syndrome (HIES) caused by loss-of-function (LOF) mutations in STAT3 gene (STAT3 LOF HIES) is associated with dental and facial abnormalities in addition to immunological defects.
Shubham Goel, Smrity Sahu, Ranjana W. Minz, Surjit Singh, Deepti Suri, Young M. Oh, Amit Rawat, Shobha Sehgal, Biman Saikia   +8 more
doaj   +1 more source

Rowland Clark and Dan Holdeman Site Human Skeletal Remains [PDF]

, 1994
The Rowland Clark site was occupied by Caddoan Indian groups from approximately A.D. 1300-1600+. Twenty one of the 39 burials recovered during the Museum of the Red River excavations were assigned to the earliest McCurtain phase occupation (ca. A.D. 1300-
Loveland, Carol J.
core   +1 more source

Temperature responsiveness of gilthead sea bream bone; an in vitro and in vivo approach [PDF]

, 2018
This study aimed to characterize the molecules involved in osteogenesis in seabream and establish using in vitro/in vivo approaches the responsiveness of selected key genes to temperature.
Capilla, Encarnacion, Costa, Rita, Gisbert, Enric, Gutierrez, Joaquim, Martins, Rute, Navarro, Isabel, Patricia Mateus, Ana, Power, Deborah M., Riera-Heredia, Natalia   +8 more
core   +3 more sources

Differentiating the Clinical and Variant Spectrum of Hardikar Syndrome From Other MED12‐Related Developmental Disorders

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT The rare X‐linked female‐restricted Hardikar syndrome (HDKR, OMIM # 301068) is characterized by multiple congenital anomalies including orofacial clefts, gastrointestinal, genitourinary, and cardiac anomalies, but cognitive and neurobehavioral development is rarely impaired.
Tinne Warmoeskerken, Miel Theunis, Kris Van den Bogaert, Koenraad Devriendt, Jeroen Breckpot   +4 more
wiley   +1 more source

Diagnostic accuracy of routine anomaly scans in identifying congenital malformations during the second trimester. A cross-sectional observational study.

Student's Journal of Health Research Africa
Background: Congenital malformations remain a leading cause of neonatal morbidity and mortality worldwide. Early detection through routine anomaly scans during the second trimester is critical for timely counseling, management, and improving pregnancy ...
Chhani Lal Narsingh Sidar, Dr. Vidya Laxmi   +1 more
doaj   +1 more source

Skeletal anomalies in patients with neurofibromatosis type 1

Гений oртопедии, 2022
Introduction Neurofibromatosis type 1 (NF1) is one of the most common hereditary tumor syndromes. The average incidence of NF1 in the world is 1:3000 of the population.
Rustam N. Mustafin
doaj   +1 more source