Results 171 to 180 of about 113,820 (337)

An International ASXL3 Natural History Study: Deep Phenotypic Analyses Including Detailed Reports of a Milder Phenotype, Novel Associations, and Clinical Recommendations

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Natural History Studies can help inform clinician and caregiver expectations, form the basis of management guidelines, and provide a comparator for therapeutic intervention. In rare conditions, where collection of prospective longitudinal data is untimely and impractical, quasi‐natural history data—from multiple individuals of different ages ...
E. Woods, N. Holmes, A. S. Denommé‐Pichon, M. Vincent, N. Belova, C. Gooch, B. Isidor, C. W. Ockeloen, E. Pavlidou, H. Stewart, V. J. M. Verhoeven, A. Ververi, A. Dixit, A. Sarkar, R. Legg, E. Reid, M. Balasubramanian   +16 more
wiley   +1 more source

Recent Advances in Inborn Errors of Metabolism [PDF]

, 1988

openalex   +1 more source

Correction to: Pre-Transplant Immune Dysregulation Predicts for Poor Outcome Following Allogeneic Haematopoietic Stem Cell Transplantation in Adolescents and Adults with Inborn Errors of Immunity (IEI). [PDF]

J Clin Immunol
Fox TA, Massey V, Lever C, Pearce R, Laurence A, Grace S, Oliviero F, Workman S, Symes A, Lowe DM, Fiaccadori V, Hough R, Tadros S, Burns SO, Seidel MG, Carpenter B, Morris EC.   +16 more
europepmc   +1 more source

A Novel Pathogenic Variant in CRB1 as the Cause of Non‐Syndromic Retinitis Pigmentosa in a Geographical Isolate in Northern Italy

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Non‐syndromic Retinitis Pigmentosa (NsRP) was well known as one of the causes of visual impairment already in the 19th century. Giuseppe Albertotti, Professor of Ophthalmology at the University of Modena (Italy) in 1893, described a high prevalence of NsRP in a geographic isolate, the small village of Colloro, in northwestern Italy.
Andrea Guala, Fabio Sirchia, Claudia Scotti, Elena Rossi, Roberta Falcioni, Silvano Ragozza, Antonella Casella, Enza Maria Valente, Cesare Danesino   +8 more
wiley   +1 more source

In Reply: Revised Method of Proton NMR Urinalysis for Detecting Inborn Errors of Metabolism: a Critique [PDF]

, 1988
Shuichi Yamaguchi
openalex   +1 more source

Autoimmune manifestations in children with inborn errors of immunity in Morocco: A study from the national registry. [PDF]

J Transl Autoimmun
Elamine A, Benhsaien I, Ailal F, Errami A, Kasmi Z, Aadam Z, Bourhanbour AD, Bousfiha AA, El Bakkouri J.   +8 more
europepmc   +1 more source

Liver transplantation and portacaval shunt in genetic diseases [PDF]

, 1982
Starzl, TE
core  

Neuroaxonal Dystrophy With Osteopetrosis Associated With a Novel Biallelic Nonsense Homozygous Variant in BORCS5

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Neuroaxonal dystrophy (NAD) with osteopetrosis syndrome (OMIM # 600329) was first reported in a consanguineous Moroccan Jewish family. However, to date, no genetic variant has been linked to this disease. We report on sibs, born to consanguineous Pakistani parents identified prenatally with cerebral ventriculomegaly and agenesis of the corpus ...
Yael Fisher, Orli Greenberg, Patrick Shannon, Andrea Staines, Bobbi McGivern, Melanie Patricia Napier, David Chitayat   +6 more
wiley   +1 more source

138 PROSPECTIVE ANALYSIS OF PATENT DUCTUS ARTERIO-SUS (PDA) IN INBORN INFANTS < 1500 GM [PDF]

, 1981
Jaime A Furzán, W. Pennock Laird, Jon E. Tyson, Charles R. Rosenfeld   +3 more
openalex   +1 more source

Rheumatologic manifestations in children with underlying inborn errors of immunity. [PDF]

BMC Rheumatol
Saeidi Z, Fadai S, Mesdaghi M, Mirzaee AZ, Sharafian S, Rahmani K, Eslami N, Parvaneh VJ, Talebi M, Chavoshzadeh Z, Shiari R.   +10 more
europepmc   +1 more source