Results 31 to 40 of about 172,436 (294)

Advantages of CRISPR-Cas9 combined organoid model in the study of congenital nervous system malformations

Frontiers in Bioengineering and Biotechnology, 2022
In the past 10 years, gene-editing and organoid culture have completely changed the process of biology. Congenital nervous system malformations are difficult to study due to their polygenic pathogenicity, the complexity of cellular and neural regions of ...
Li Xiaoshuai, Wang Qiushi, Wang Rui
doaj   +1 more source

Congenital incudostapedial malformation

Indian Journal of Otolaryngology & Head and Neck Surgery, 1997
A case of bilateral symmetrical conductive deafness in a 45 year old female is presented. Tympanotomy revealed an anomaly involving the incudostapedial complex. The case is reported both because of rarity and also the anomaly encountered makes it apparently unique.
S M, Iqbal, P K, Banerjee, N, Sharma
openaire   +3 more sources

Congenital malformations

Current Opinion in Obstetrics and Gynecology, 1996
Obstetricians' epidemiological knowledge and their awareness of associated risk factors are essential for the primary prevention of birth defects. Screening and early diagnosis of congenital malformations is an expanding field in general obstetrics. Cardiac defects are the most frequent type of congenital malformation, and early detection is possible.
E C, Gadow, L, Otaño, S E, Lippold
openaire   +4 more sources

Atrioventricular canal defect and genetic syndromes: the unifying role of sonic hedgehog [PDF]

, 2019
The atrioventricular canal defect (AVCD) is a congenital heart defect (CHD) frequently associated with extracardiac anomalies (75%). Previous observations from a personal series of patients with AVCD and "polydactyly syndromes" showed that the distinct ...
Baban, A, Calcagni, G, Dallapiccola, B, De Luca, A, Dentici, M L, Digilio, M C, Marino, B, Pugnaloni, F, Tartaglia, M, Versacci, P   +9 more
core   +1 more source

Turner syndrome and associated problems in turkish children: A multicenter study [PDF]

, 2015
Objective: Turner syndrome (TS) is a chromosomal disorder caused by complete or partial X chromosome monosomy that manifests various clinical features depending on the karyotype and on the genetic background of affected girls.
Abacı, A., Abalı, S., Adal, E., Akın, L., Akıncı, A., Akyürek, N., Andıran, N., Anık, A., Atabek, M.E., Ataş, A., Aydın, B.K., Açıkel, C., Baş, F., Baş, S., Baş, V.N., Bereket, A., Binay, Ç., Bolu, S., Bondy, C., Bulan, K., Büyükinan, M., Can, H.D., Cinaz, P., Darcan, Ş., Darendeliler, F., Demir, K., Demirbilek, H., Demirel, F., Doğan, D., Doğan, M., Döneray, H., Dündar, B., Eklioğlu, B.S., Emeksiz, H.C., Ercan, O., Eren, E., Ersoy, B., Evliyaoğlu, O., Fidancı, K., Gökşen, D., Gül, D., Gürbüz, F., Hatun, Ş., Kaba, S., Kara, C., Karagüzel, G., Keskin, M., Kızılay, D., Orbak, Z., Pirgon, Ö., Polat, A., Poyrazoğlu, Ş., Sarı, E., Sağlam, H., Tarım, Ö., Tepe, D., Topaloğlu, A.K., Turan, S., Yeşilkaya, E., Yüksel, B., Çakır, E.D., Çatlı, G., Çelik, N., Çizmecioğlu, F., Ökten, A., Önal, H., Özbek, M.N., Özen, S., Özgen, T., Özhan, Bayram, Özkan, B., Ünüvar, T., Şen, Y., Şimşek, E.   +73 more
core   +1 more source

De novo congenital malformation frequencies in children from the Bryansk region following the Chernobyl disaster (2000–2017)

Heliyon, 2020
Background: Ionizing radiation and chemical pollution can disrupt normal embryonic development and lead to congenital malformations and fetal death. We used official government statistical data for 2000–2017 to test the hypothesis that radioactive and ...
Anton V. Korsakov, Emilia V. Geger, Dmitry G. Lagerev, Leonid I. Pugach, Timothy A. Mousseau   +4 more
doaj   +1 more source

Ethnicity Influences Corpus Callosum Dimensions

Neurology Research International, 2018
Background and Objective. Corpus callosum (CC), the main white matter cable which connects two hemispheres of brain, is important in special procedures such as stereotaxic surgeries vary in size, in different populations.
Hilda Nouri Hosseini, Mohammad Reza Mohammadi, Mohsen Aarabi, Narges Mohammadi, Mohammad Jafar Golalipour   +4 more
doaj   +1 more source

Microcephaly and macrocephaly. A study on anthropometric and clinical data from 308 subjects [PDF]

, 2019
Head circumference is the auxological parameter that most correlates with developmental anomalies in childhood. Head circumference (HC) two standard deviations (SD) below or above the mean defines microcephaly and macrocephaly, respectively.
Corsello G., Mancuso G., Martorana C., Montante C., Notarbartolo V., Piro E., Schierz I. A. M., Vanella V.   +7 more
core   +1 more source

Congenital malformations at a referral hospital in Gorgan, Islamic Republic of Iran [PDF]

, 2005
This study recorded the rate of congenital malformations in 10 000 births at a referral hospital in Gorgan, Islamic Republic of Iran in 1998-99. The overall incidence of congenital malformations was 1.01% (1.19% in males and 0.76% in females).
Ahmadpour-Kacho, M., Golalipour, M.J., Vakili, M.A.   +2 more
core  

Analysis of Treacher Collins syndrome 4‐associated mutations in Schizosaccharomyces pombe

FEBS Open Bio, EarlyView.
Fission yeast models carrying Treacher Collins syndrome type 4‐associated mutations reveal that impaired processivity of RNA polymerase I leads to defective rRNA transcription. This study highlights the essential role of a conserved arginine residue in Pol I elongation and provides mechanistic insight into the pathogenesis of ribosomopathies.
Kei Kawakami, Hiroaki Kato
wiley   +1 more source