Results 191 to 200 of about 4,846,243 (320)

Garrod's Inborn Factors in Disease. By C.R. Scriver, B. Childs. Oxford Monographs in Medical Genetics No.16. Oxford University Press. 1989. 247 pages, £25.00. ISBN 0 19 261574 2. [PDF]

Genetical Research, 1989
openaire   +1 more source

TTC21B: From Modifier to Causative Gene in Joubert Syndrome

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Biallelic pathogenic variants in TTC21B, encoding the retrograde intraflagellar transport protein IFT139, are a known cause of renal and skeletal ciliopathies. Single heterozygous variants in this gene were found to be enriched in a cohort of patients with various ciliopathy phenotypes, including three individuals with Joubert syndrome (JS), a
Valentina Serpieri, Fulvio D'Abrusco, Anna Pichiecchio, Thouraya Ben Younes, Ichraf Kraoua, Enza Maria Valente   +5 more
wiley   +1 more source

Designing an integrated data model for prospective genotype-phenotype in inborn errors of immunity research. [PDF]

Front Immunol
Ahmed M, Bousfiha AA, Almarzooqi F.
europepmc   +1 more source

Reframing Trisomy 13 and 18 Care: Moving Beyond the Myth of “Incompatibility With Life” in a South African and Low‐and Middle‐Income Country Context

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Trisomy 13 (T13) and trisomy 18 (T18) have historically been described as “lethal” or “incompatible with life,” contributing to diagnosis‐based limitations of care. Contemporary evidence demonstrates greater heterogeneity in survival and outcomes than previously recognized, including among selected children receiving intensive care or cardiac ...
H. L. Malherbe, M. Araujo, L. Balimba, J. A. Joshi, P. Makhetha, M. Meiring, M. T. Mpe, D. Reddy, B. Shingwenyana, J. C. Carey   +9 more
wiley   +1 more source

Markedly Elevated Serum IgE in a Patient With Thrombocytopenia and a TUBA8 Variant of Uncertain Significance: A Case Report. [PDF]

Case Reports Immunol
Nabavizadeh SH, Askarisarvestani A, Esmaeilbeig M, Shahriari M.   +3 more
europepmc   +1 more source

Diseases and their innate healer

, 1922
1924 ed.
Stevens, Arthur Julius.
core  

Biallelic PAX6 Variants in an Adult With Severe Microphthalmia and Preserved Intellectual Function

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT PAX6 encodes a dosage‐sensitive transcription factor that is essential for eye development. Heterozygous PAX6 disease is well characterized, but biallelic disease is extremely rare and has been associated with anophthalmia, severe brain malformations, and perinatal lethality.
Karl De Geer, Britt‐Marie Anderlid, Lena Jacobson, Daniel Martín Muñoz, Erik Björck   +4 more
wiley   +1 more source

Primary Immunodeficiency Disorders and Inborn Errors of Immunity in Saudi Arabia: Current Evidence on Epidemiology, Clinical Impact, and Healthcare System Challenges. [PDF]

Healthcare (Basel)
Alkarni M.
europepmc   +1 more source

Recurrent Neurodevelopmental Disorder Associated With a Dominant‐Negative TOP2B H63Y Variant

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT We describe a 7 year‐old boy with severe neurodevelopmental disorder, medically‐refractory epileptic encephalopathy, hyperkinetic movement disorder, hypotonia, cerebral and cerebellar atrophy and hypomyelination who was found to have a heterozygous de novo TOP2B NM_001330700.2:c.187C>T, p.(His63Tyr) variant.
Zong Yi Ha, Leticia Dinatto, Kirsten Meagher, Colleen Guimond, Jan M. Friedman, Peter C. Stirling, Millan S. Patel   +6 more
wiley   +1 more source

Biologics and JAK inhibitors for atopic manifestations in inborn errors of immunity: a systematic review. [PDF]

Front Allergy
Jamee M, Al-Gaweesh RM, Hajialigol A, Mohammed SG, Tirandazi P, Alangari AA, El-Owaidy R.   +6 more
europepmc   +1 more source