Results 171 to 180 of about 11,012 (235)

Sublingual Administration of Desmopressin Oral Disintegrating Tablet in a Neonate With Central Diabetes Insipidus. [PDF]

Cureus
Watanabe D, Yagasaki H, Tsukahara M, Narusawa H, Inukai T.   +4 more
europepmc   +1 more source

Computational Mapping of Hedgehog Pathway Kinase Module Predicts Node-Specific Craniofacial Phenotypes. [PDF]

Genes (Basel)
Gramatikoff K, Stoykov M, Hörmann K, Milkov M.   +3 more
europepmc   +1 more source

The law on voluntary termination of pregnancy in Argentina: impact on the epidemiological situation of congenital anomalies and prenatal diagnostic health services. [PDF]

J Community Genet
Barbero P, Brun P, Groisman B, Bidondo MP, Aiello H, Trotta M, Liascovich R.   +6 more
europepmc   +1 more source

Congenital Holoprocencephaly, Hydrocephalus, and Dandy-Walker Malformation Due to Plasminogen Deficiency. [PDF]

Cureus
Antonakopoulos N, Perdikaris P, Styliara I, Tzela P, Adonakis G.   +4 more
europepmc   +1 more source

Patterning of the antero-ventral mammalian brain: Lessons from holoprosencephaly comparative biology in man and mouse.

WIREs Mechanisms of Disease, 2022
Adult form and function are dependent upon the activity of specialized signaling centers that act early in development at the embryonic midline. These centers instruct the surrounding cells to adopt a positional fate and to form the patterned structures ...
Kristen S. Barratt, Kyle A Drover, Z. M. Thomas, R. Arkell   +3 more
semanticscholar   +2 more sources

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Mutations in holoprosencephaly

Human Mutation, 2000
Holoprosencephaly (HPE) is the most common developmental defect of the forebrain and midface in humans. In holoprosencephaly the cerebral hemispheres of the brain fail to separate into distinct left and right hemispheres. This malformation is due to the improper specification and formation of the forebrain during early development.
Maximilian Muenke, Deeann Wallis
exaly   +3 more sources

Neuropathology of holoprosencephaly

American Journal of Medical Genetics Part C: Seminars in Medical Genetics, 2018
Holoprosencephaly (HPE) is a primary disorder of neural induction and patterning of the rostral neural tube resulting in noncleavage of the forebrain with failure to form two separate distinct hemispheres.
C. Fallet-Bianco
semanticscholar   +3 more sources

ZIC2 in Holoprosencephaly.

Advances in Experimental Medicine and Biology, 2018
The ZIC2 transcription factor is one of the most commonly mutated genes in Holoprosencephaly (HPE) probands. HPE is a severe congenital defect of forebrain development which occurs when the cerebral hemispheres fail to separate during the early stages of organogenesis and is typically associated with mispatterning of the embryonic midline. Recent study
Kristen S. Barratt, R. Arkell
semanticscholar   +4 more sources

Facial Evaluation in Holoprosencephaly

Journal of Craniofacial Surgery, 2017
Holoprosencephaly (HPE) is a malformation of the brain, occurring during the first weeks of pregnancy, that may be associated with several craniofacial alterations and different pathological conditions.The authors describe a 2-year-old girl with lobar HPE, epilepsy, but with a roughly normal face.
V. Pucciarelli, S. Bertoli, M. Codari, P. Veggiotti, A. Battezzati, C. Sforza   +5 more
semanticscholar   +5 more sources