Results 31 to 40 of about 97,105 (315)

Cerebellar Atrophy in Leukemia Survivors

Pediatric Neurology Briefs, 1994
MRI changes in the cerebellum and cognitive function of 13 survivors of childhood acute lymphoblastic leukemia (ALL) treated with cranial radiation of 24 Gy and intrathecal methotrexate were studied at the University of New Mexico, Albuquerque, Manitoba ...
J Gordon Millichap
doaj   +1 more source

An alternate translation initiation site circumvents an amino-terminal DAX1 nonsense mutation leading to a mild form of X-linked adrenal hypoplasia congenita

, 2003
Mutations in DAX1 [dosage-sensitive sex reversal-adrenal hypoplasia congenita (AHC) critical region on the X chromosome gene 1; NROB1] cause X-linked AHC, a disease characterized by primary adrenal failure in infancy or childhood and reproductive ...
Beck-Peccoz, P, J. L. Jameson, A. Spada, Spada, A, G. Mantovani, Weiss, J, P. Beck-Peccoz, Ozisik, G, L. Persani, Achermann, JC, Mantovani, G, J. C. Achermann, J. Weiss, Persani, L, Jameson, JL, G. Ozisik   +15 more
core   +1 more source

ENAM mutations and digenic inheritance

Molecular Genetics & Genomic Medicine, 2019
Background ENAM mutations cause autosomal dominant or recessive amelogenesis imperfecta (AI) and show a dose effect: enamel malformations are more severe or only penetrant when both ENAM alleles are defective.
Hong Zhang, Yuanyuan Hu, Figen Seymen, Mine Koruyucu, Yelda Kasimoglu, Shih‐Kai Wang, John Timothy Wright, Michael W. Havel, Chuhua Zhang, Jung‐Wook Kim, James P. Simmer, Jan C.‐C. Hu   +11 more
doaj   +1 more source

Unilateral pulmonary hypoplasia in an adult

Medical Journal of Dr. D.Y. Patil University, 2016
Pulmonary hypoplasia is a bronchopulmonary foregut anomaly characterized by a decrease in the number or size of airways, vessels, and alveoli. Unilateral pulmonary hypoplasia is a rare congenital anomaly, which is frequently associated with other ...
Akshay Ajit Shah, Anjali R Singh, Amit T Kharat   +2 more
doaj   +1 more source

Radiographic measurements of the trachea in domestic short haired and Persian cats [PDF]

, 2011
Tracheal diameter can be assessed from a thoracic radiograph, with assessment of tracheal diameter in dogs based on ratios between tracheal diameter and a skeletal measurement – however reference ranges are not available for the cat.
Hammond, G., Mary Geary, Gunn Moore, D., Danièlle Gunn-Moore, Coleman, E., Geary, M., Erica Coleman, Gawain Hammond   +7 more
core   +1 more source

Super‐Refractory Status Epilepticus (SRSE) in a Patient With Compound Heterozygous OPA1 Variants: Case Report and Literature Review

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Super‐Refractory Status Epilepticus (SRSE) is a rare, life‐threatening neurological emergency with unclear etiology in many cases. Mitochondrial dysfunction, often due to disease‐causing genetic variants, is increasingly recognized as a cause, with each gene producing distinct pathophysiological mechanisms.
Pouria Mohammadi, Lara Basovic, Christopher Michael McGraw   +2 more
wiley   +1 more source

Unilateral Internal Carotid Artery Hypoplasia Incidentally Found in Adult Patient

Çukurova Üniversitesi Tıp Fakültesi Dergisi, 2013
Unilateral hypoplasia of the internal carotid artery, is an extremely rare conjenital anomaly. It is usually diagnosed incidentally during radiological examination for another reason.
Cenk Aypak, Nilgun Cakmak, Ozlem Turedi, Hacer Firat, Suleyman Gorpelioglu   +4 more
doaj   +1 more source

Developmental and Epileptic Encephalopathy due to Biallelic Pathogenic Variants in PIGM

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective PIGM encodes a critical enzyme in the glycosylphosphatidylinositol (GPI)‐anchor biosynthesis pathway. While promoter‐region mutations in PIGM have been associated with a relatively mild phenotype characterized by portal vein thrombosis and absence seizures, recent evidence suggests that coding‐region mutations result in a more severe
Júlia Sala‐Coromina, Anna Marcé‐Grau, Barbara Masotto, Marta Codina, Lamia BenJemaa, Yasmina Elaribi, Mónica Martinez‐Gallo, Roger Colobran, Angel Sanchez‐Montañez, Irene Valenzuela, Yoshiko Murakami, Alfons Macaya   +11 more
wiley   +1 more source

Functional Mapping of Neurodevelopmental Disease Pathways to Key Neurodevelopmental Processes Represented in the Developmental Neurotoxicity In Vitro Testing Battery

Advanced Science, EarlyView.
Human‐relevant methods are essential for modern chemical safety assessment. This study helps define the capabilities and boundaries of an in vitro testing battery for developmental neurotoxicity by exploring its biological applicability domain. By linking neurodevelopmental disease‐related pathways to key neurodevelopmental processes, the work enhances
Eliska Kuchovska, Kristina Bartmann, Georgea Raad, Mats Schade, Luiz Ladeira, Arif Dönmez, Jördis Klose, Nicolai Görts, Denis Polozij, Lynn‐Christin Saborowski, Farina Bendt, Bernard Staumont, Liesbet Geris, Katharina Koch, Ellen Fritsche   +14 more
wiley   +1 more source

Becker's nevus syndrome with bilateral skin involvement

Dermatologica Sinica, 2014
Becker’s nevus syndrome is a rare disorder characterized by Becker's nevus associated with developmental anomalies, such as hypoplasia of the ipsilateral breast or other cutaneous, muscular, or skeletal defects.
L.U. Rongbiao, M.A. Han, L.U. Chun, L.A.I. Wei   +3 more
doaj   +1 more source