Results 291 to 300 of about 849,858 (379)

Autosomal Dominant Erythrocytosis Caused by Non‐Renal Erythropoietin (EPO) Due to EPO c.‐136 G>A Germline Mutation

open access: yesAmerican Journal of Hematology, EarlyView.
A novel erythropoietin (EPO) promoter mutation (c.‐136 G>A) causes autosomal dominant erythrocytosis via non‐renal expression of EPO. ABSTRACT We previously reported a five‐generation kindred with autosomal dominant erythrocytosis associated with a novel germline promoter variant in the erythropoietin (EPO) gene (EPO c.‐136 G>A).
Lucie Lanikova   +10 more
wiley   +1 more source

Growth Standards for Children With Smith–Magenis Syndrome (SMS)

open access: yesAmerican Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Smith–Magenis syndrome (SMS, OMIM 182290) is a complex syndromic diagnosis marked by neurobehavioral differences and distinct facial dysmorphisms, caused by haploinsufficiency of the retinoic acid‐1 (RAI1) gene either by a pathogenic sequence variant or deletion at chromosome 17p11.2 involving a portion or all of this gene.
Julie Hoover‐Fong   +10 more
wiley   +1 more source

Solid Cancers in the Premature and the Newborn: Report of Three National Referral Centers

open access: diamond, 2015
Anna Raciborska   +8 more
openalex   +1 more source

A Systematic Review and Meta‐Analysis of the Birth Prevalence of Turner Syndrome

open access: yesAmerican Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Turner syndrome, a chromosomal disorder, causes short stature, pubertal arrest, amenorrhea, and infertility in females. Prevalence estimates vary widely; however, reliable estimates are important for public health initiatives. Therefore, a meta‐analysis was undertaken.
David Hinds   +5 more
wiley   +1 more source

Newborns' attention to socio-emotional prosodic cues from voices. [PDF]

open access: yesiScience
Silvestri V   +6 more
europepmc   +1 more source

Nance‐Horan Syndrome: Further Delineation of the Affected Male and the Female Carrier Phenotypes

open access: yesAmerican Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Nance‐Horan syndrome (NHS; OMIM 302350) is a rare, X‐linked syndrome characterized by bilateral congenital cataracts leading to profound vision loss, specific dental anomalies including characteristic screwdriver blade‐shaped incisors, facial anomalies, and intellectual disability.
Maria K. Haanpää   +14 more
wiley   +1 more source

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