Results 41 to 50 of about 68,843 (129)

The Bioengineered Uterus: A Possible Future

open access: yes, 2019
© Springer Nature Switzerland AG 2020. This book discusses all aspects of the uterus transplantation procedure in women who are childless because of a dysfunctional or missing uterus, from initial pre-operative investigations to follow-up after the ...
Brännström, Mats,   +3 more
core   +1 more source

Genetically Confirmed Osteogenesis Imperfecta (COL1A1) With Unexplained Ambiguous Genitalia in a 46,XY Child: An Index Case Report

open access: yesClinical Case Reports, Volume 14, Issue 7, July 2026.
A 6‐year‐old child with a rare dual diagnosis confirmed by genetic testing ‐ osteogenesis imperfecta (blue sclerae, disproportionate short stature) and concurrent 46,XY disorder of sex development (micropenis, hypospadias, impalpable gonads). ABSTRACT Osteogenesis imperfecta (OI) is a heritable disorder of type I collagen characterized by bone ...
Harshita Agarwal   +4 more
wiley   +1 more source

Domestic Species Research in Uterus Transplantation

open access: yes, 2019
The domestic species that have been used in modern research in UTx are the pig and the sheep. An advantage of these animals, as compared to most other experimental animals, is their similarity in size of body, uterus, and vasculature to humans.
Brännström, Mats,, Mats Brännström
core   +1 more source

From Multiple Congenital Anomalies to Pituitary Gland Malformation: Wide Spectrum of Clinical Features in a Family With FOXA2 Variant

open access: yesAmerican Journal of Medical Genetics Part A, Volume 200, Issue 6, Page 1452-1457, June 2026.
ABSTRACT FOXA2 (hepatocyte nuclear factor‐3β, HNF‐3β) encodes a transcriptional activator involved in early embryogenesis, particularly in the patterning and differentiation of midline structures such as the neural tube, foregut, and pituitary gland. Its role in human pathogenesis was first suspected when patients with deletion of chromosome 20p11.2 ...
Christopher Connolly   +3 more
wiley   +1 more source

Social Media and Body Dysmorphic Disorder

open access: yes, 2021
The prevalence of social media in today’s society has increased greatly over the past ten years, especially amongst adolescents who are growing up with the internet and media influencing how they view themselves and the world around them.
Menon, Adi   +5 more
core   +1 more source

Hydranencephaly in Neonate With Prenatal Exposure to Alcohol During Pregnancy

open access: yesClinical Case Reports, Volume 14, Issue 6, June 2026.
ABSTRACT Hydranencephaly (HE) is a rare congenital condition characterized by near‐total absence of the cerebral hemispheres, replaced by cerebrospinal fluid, most commonly resulting from in utero bilateral internal carotid artery occlusion; although maternal alcohol consumption is associated with fetal neurodevelopmental abnormalities, its direct role
Dibya Raj Chaudhary   +3 more
wiley   +1 more source

Antenatal Presentation of MRPS22‐Related Mitochondrial Disease Confirmed With Rapid Proteomics

open access: yesJIMD Reports, Volume 67, Issue 3, May 2026.
ABSTRACT MRPS22‐related mitochondrial disease (MIM#611719) is a rare autosomal recessive disorder caused by defects in the mitochondrial ribosomal protein S22, a component of the small mitoribosomal subunit essential for mitochondrial translation. Of the few reported cases, most present antenatally with a severe phenotype, conveying a poor prognosis ...
Liana N. Semcesen   +43 more
wiley   +1 more source

Psychological aspects after uterus transplantation

open access: yes, 2019
Uterus transplantation is a novel form of transplantation. The first successful uterus transplantation was performed just more than 5 years ago, and we are presently accumulating more and more data about events after transplantation, both considering the
Järvholm, Stina,
core   +1 more source

Towards understanding the myometrial physiome: approaches for the construction of a virtual physiological uterus [PDF]

open access: yes, 2007
Premature labour (PTL) is the single most significant factor contributing to neonatal morbidity in Europe with enormous attendant healthcare and social costs. Consequently, it remains a major challenge to alleviate the cause and impact of this condition.
Bin Wang   +19 more
core   +1 more source

Detection of the Heterozygous Recurrent MAX p.(Arg60Gln) Variant in Two Females Confirms and Expands the Phenotypic Spectrum of Polydactyly–Macrocephaly Syndrome

open access: yesClinical Genetics, Volume 109, Issue 4, Page 788-795, April 2026.
We identified a recurrent heterozygous MAX c.179G>A:p.Arg60Gln variant in two unrelated females affected with the emerging phenotypes of MAX‐associated polydactyly‐macrocephaly syndrome. We propose that genitourinary abnormalities, including Mayer–Rokitanski–Kuster–Hauser syndrome in one individual, are an expansion of the known phenotypes associated ...
Iftekhar A. Showpnil   +9 more
wiley   +1 more source

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