Zobrazeno 1 - 10
of 12
pro vyhledávání: '"Nneamaka B. Agochukwu"'
Autor:
Colin M. P. Yarnell, Donald W. Hadley, Maximilian Muenke, H. Collmann, Paul Kruszka, Edythe Wiggs, Tilmann Schweitzer, Yvonne Paelecke, Maria J. Guillen Sacoto, Rachel A. Hart, Petra Platte, Nneamaka B. Agochukwu, Yonit A. Addissie
Publikováno v:
The Journal of Pediatrics. 167:428-434
To investigate executive function and adaptive behavior in individuals with Muenke syndrome using validated instruments with a normative population and unaffected siblings as controls.Participants in this cross-sectional study included individuals wi
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4bdac8fb77d611bb767ead9b3c5555fa
https://doi.org/10.1016/j.jpeds.2015.04.080
https://doi.org/10.1016/j.jpeds.2015.04.080
Publikováno v:
American Journal of Audiology. 23:135-141
PurposeThere are a number of craniosynostosis syndromes with hearing loss—including Muenke, Apert, Pfeiffer, Crouzon, Beare-Stevenson, Crouzon with acanthosis nigricans, and Jackson-Weiss syndromes—that result from mutations in the fibroblast gro
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::30a2aee4c7a8e4b9bfc4d485182769b2
https://doi.org/10.1044/2014_aja-13-0036
https://doi.org/10.1044/2014_aja-13-0036
Publikováno v:
American Journal of Medical Genetics Part A. 161:453-460
Muenke syndrome is an autosomal dominant craniosynostosis syndrome resulting from a defining point mutation in the Fibroblast Growth Factor Receptor3 (FGFR3) gene. Muenke syndrome is characterized by coronal craniosynostosis (bilateral more often tha
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e72ff2ac1695872311dda825d04b1ba9
https://doi.org/10.1002/ajmg.a.35233
https://doi.org/10.1002/ajmg.a.35233
Publikováno v:
Child's Nervous System. 28:1447-1463
More than 60 different mutations have been identified to be causal in syndromic forms of craniosynostosis. The majority of these mutations occur in the fibroblast growth factor receptor 2 gene (FGFR2). The clinical management of syndromic craniosynos
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ef16eefc0307e5ddbdbe167db19ac3f7
https://doi.org/10.1007/s00381-012-1756-2
https://doi.org/10.1007/s00381-012-1756-2
Genetic–environmental interaction in a unique case of Muenke syndrome with intracranial hypertension
Autor:
Christopher J. Lyons, Benjamin D. Solomon, Margot I. Van Allen, Travis J. Pollock, Anna Zajaczkowska-Kielska, Ash Singhal, Nneamaka B. Agochukwu, Maximilian Muenke
Publikováno v:
Child's Nervous System. 27:2183-2186
Craniosynostosis, the premature fusion of one of more of the cranial sutures, is relatively common, with an incidence of approximately 1 in 3,000 live births [3]. Although craniosynostosis typically occurs in an isolated manner, without accompanying
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::29afe4d83b7eef2a519831b70a67f942
https://doi.org/10.1007/s00381-011-1595-6
https://doi.org/10.1007/s00381-011-1595-6
Autor:
Settara C. Chandrasekharappa, Daniel E. Pineda-Alvarez, Amelia A. Keaton, Aparna Kamat, Donald W. Hadley, Manu S. Raam, Hannah Carlson-Donohoe, Benjamin D. Solomon, Nneamaka B. Agochukwu
Publikováno v:
Birth Defects Research. Part A, Clinical and Molecular Teratology
BACKGROUND Tracheo-esophageal fistula (TEF) with/or without esophageal atresia (EA) is a common congenital malformation that is often accompanied by other anomalies. The causes of this condition are thought to be heterogeneous but are overall not wel
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a47eb46384e386f2cbf5ba0f80f76172
https://doi.org/10.1002/bdra.20821
https://doi.org/10.1002/bdra.20821
Autor:
Amelia A. Keaton, Manu S. Raam, Nicole Warren-Mora, Settara C. Chandrasekharappa, Benjamin D. Solomon, Daniel E. Pineda-Alvarez, Aparna Kamat, Nneamaka B. Agochukwu
Publikováno v:
European Journal of Medical Genetics. 54:323-328
VACTERL association, a relatively common condition with an incidence of approximately 1 in 20,000 –35,000 births, is a non-random association of birth defects that includes vertebral defects (V), anal atresia (A), cardiac defects (C), tracheo-esoph
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1f580e5fee77011a3daf4238ab85f2ae
https://doi.org/10.1016/j.ejmg.2011.01.007
https://doi.org/10.1016/j.ejmg.2011.01.007
Publikováno v:
International journal of pediatric otorhinolaryngology. 78(12)
Objective This review addresses hearing loss as it occurs and has been reported in Muenke syndrome as well as six additional FGFR related craniosynostosis syndromes (Apert syndrome, Pfeiffer syndrome, Crouzon syndrome, Beare-Stevenson syndrome, Crouz
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::474759387077c01f6764d95fa4218354
https://pubmed.ncbi.nlm.nih.gov/25441602
https://pubmed.ncbi.nlm.nih.gov/25441602
The Muenke syndrome mutation (FGFR3 P250R ), which was discovered 15 years ago, represents the single most common craniosynostosis mutation. Muenke syndrome is characterized by coronal suture synostosis, midface hypoplasia, subtle limb anomalies, and
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9471f6ea526e407901f4f54e278d8bb2
https://europepmc.org/articles/PMC4131982/
https://europepmc.org/articles/PMC4131982/
Although Muenke syndrome is the most common syndromic form of craniosynostosis, the frequency of oral and palatal anomalies including high-arched palate, cleft lip with or without cleft palate has not been documented in a patient series of Muenke syn
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ccdb03da8f90cc2bd00f14447079ebfd
https://europepmc.org/articles/PMC3361570/
https://europepmc.org/articles/PMC3361570/