Results 131 to 140 of about 343,621 (301)

New characterization of congenital immunodeficiencies due to different functional alterations

, 2010
In the last thirty years of the 20th century, a formidable numbers of scientific discoveries in the field of PIDs were made. Many scientific papers have been published on the molecular and cellular basis of the immune response and on the mechanisms ...
Fusco, Anna
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Imaging Signs in Congenital Brain Disorders: A Pictorial Essay

Journal of the Korean Society of Radiology
Pediatric neuroradiology is enriched with distinctive imaging signs that serve as vital diagnostic clues across the spectrum of congenital, metabolic, infectious, and neoplastic conditions.
Foram Gala, Nikshita Jain, Nishigandha Salunke   +2 more
doaj   +1 more source

Histidine Supplementation Stabilizes Hearing and Vision and Improves Growth in HARS1‐Related Autosomal Recessive Disorder Associated With Usher‐Like Symptoms

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Autosomal recessive HARS1‐related disorder (originally described as Usher syndrome type 3B) caused by a homozygous Y454S variant in the histidyl‐tRNA synthetase gene (HARS1) is characterized by progressive sensorineural hearing and vision loss and respiratory deterioration with risk for sudden death following febrile illnesses.
Victoria Mok Siu, Rosan Kenana, Rana Chakrabarti, Sarah D. P. Wilhelm, Joseph Andrews, Susan J. Leat, Christina Parker, Michael Miller, Leslie A. Nangle, Wendy McCaul, Ashfia Chowdhury, Natalie Hutchings, Ryan A. Adams, Lauren Guy, Mandy Rhody, Verena Juncal, Marisa I. Mendes, Desiree E. C. Smith, Gajja S. Salomons, Angelica A. Moresco, Daphne L. McCulloch, D. Holmes Morton, Ilka U. Heinemann, C. Anthony Rupar   +23 more
wiley   +1 more source

Distinct Neuropsychiatric Profiles Associated With 17p11.2 Deletions and RAI1 Variants in Smith–Magenis Syndrome

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Smith–Magenis syndrome (SMS) results from either a recurrent 17p11.2 deletion or pathogenic variants in the retinoic acid induced 1 gene (RAI1). While neurodevelopmental impairment and behavioral dysregulation are well recognized, systematic genotype‐stratified analyses across psychiatric domains remain limited.
Albin Blanc, Christophe Nemos, Céline Bonnet, Mathilde Renaud, Sandra Chapuis, Pauline Boiroux, Marie‐Noëlle Babinet, Caroline Demily   +7 more
wiley   +1 more source

The relationship between motor proficiency, bilateral vestibular hypofunction and dynamic visual acuity in children with congenital or early acquired sensorineural hearing loss

, 2010
Includes bibliographical references (leaves 105-115).The functional integrity of the vestibular system in children is not often tested. Due to the close relationship between the cochlea and the peripheral vestibular system, the function of the vestibular
Geldenhuys, Wilhelmien
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Biocultural perspectives on birth defects in medieval urban and rural English populations. [PDF]

, 2001
The biocultural and epidemiological approaches have been used as investigative methods by which to assess the prevalence of birth defects of the axial skeleton among five English Medieval population samples (Raunds Fumells, Northamptonshire; the hospital/
Sture, J.F.
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Expanding the Utility of Exome Sequencing in Preventive and Population Genetics

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Carrier screening is a long‐standing genetic testing process offered to at‐risk couples, with or without a family history, who might have pregnancies affected by an autosomal recessive (AR) or X‐linked (XL) disorder. A total of 276 unrelated individuals, initially referred for rare disorder screening by clinicians, were enrolled in this study ...
Charilaos Kostoulas, Athanasia Sesse, Ioanna Bouba, Robert Najdecki, Spyridon Konitsiotis, Sofia Markoula, Ioannis Georgiou   +6 more
wiley   +1 more source

Expanded Phenotype Associated With an Intronic PPP1R12A Variant: A Case Report and Literature Review

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Autosomal dominant PPP1R12A‐related genitourinary and/or brain malformation syndrome is a recently described multisystem disorder caused by loss‐of‐function variants in the protein phosphatase 1 regulatory subunit 12a (PPP1R12A) gene. To date, 22 affected individuals have been reported with variable brain malformations and genitourinary ...
Emily M. Bland, Amber Nakar Weinstein, Eric C. Kao, Xiaonan Zhao, Monika Weisz‐Hubshman   +4 more
wiley   +1 more source

Assessment of Growth in Cardio‐Facio‐Cutaneous Syndrome

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Cardio‐facio‐cutaneous (CFC) syndrome is a rare, multiple congenital anomaly disorder in which individuals commonly experience faltering growth; however, systematic analysis of growth parameters in this disorder has not been performed. We recruited 69 participants with CFC through CFC International and collected data on assessing height ...
Kari Johnston, Sandesh C. S. Nagamani, Bradley S. Miller, Katherine A. Rauen, Richard D. Boyce, Salma Musaad, Pilar L. Magoulas   +6 more
wiley   +1 more source

Fundus changes associated with congenital hypertrophy of the retinal pigment epithelium

, 1993
The clinical characteristics and follow-up changes of 64 patients with solitary congenital hypertrophy of the retinal pigment epithelium were studied.
Klainguti, G., Zografos, L., Chamot, L.
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