Results 191 to 200 of about 41,346 (241)

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

American Journal of Medical Genetics Part A, Volume 200, Issue 3, Page 642-652, March 2026.
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, Chad R. Haldeman‐Englert, Marja Hietala, Melisa S. Tanverdi, Patrick P. Koty, Diana Brightman, Eniolami Dosunmu, Shailja Tibrewal, Savleen Kaur, Anupriya Kaur, Raj Kumar Verma, Alejandra G. de Alba Campomanes, Virginia Utz, Anne M. Slavotinek, Cynthia Curry   +14 more
wiley   +1 more source

Reciprocal activation between M1 macrophages and trophoblasts through CXCL9/STAT1/ZEB1/CCL2 axis promotes recurrent spontaneous abortion. [PDF]

Front Immunol
Yan S, Wang X, Wu Q, Ding J, Qiu H.
europepmc   +1 more source

GATA3 Deletion Associated With Juvenile Idiopathic Arthritis: Expanding the Phenotypic Spectrum of Hypoparathyroidism, Sensorineural Deafness, and Renal Dysplasia (HDR) Syndrome

American Journal of Medical Genetics Part A, Volume 200, Issue 3, Page 733-737, March 2026.
ABSTRACT Hypoparathyroidism, sensorineural deafness, and renal dysplasia (HDR) syndrome is caused by pathogenic variants in the GATA3 gene located on chromosome 10p14. Here we present a 10‐year‐old girl with HDR syndrome who also has oligoarticular juvenile idiopathic arthritis (JIA).
Lauren N. Meiss, Amanda V. Karam, Julia Shalen, David E. Tunkel, Belina Y. Yi, Kelsey S. Guthrie, Emily M. Kudalkar, Anna E. Patrick, Sonja A. Rasmussen   +8 more
wiley   +1 more source

Peripheral Blood Expression of MMPs and DNA Methylation-Related Genes in Women with Recurrent Spontaneous Abortion: A Case-Control Study. [PDF]

F1000Res
Imani M, Zare F, Hadinedoushan H, Rahmani F, Fesahat F.   +4 more
europepmc   +1 more source

Variant Update on ASCC1 : Characterization of the First Homozygous Missense Variant Involved in Prenatal‐Onset Spinal Muscular Atrophy With Congenital Bone Fractures 2

American Journal of Medical Genetics Part A, Volume 200, Issue 3, Page 744-748, March 2026.
ABSTRACT Spinal muscular atrophy with congenital bone fractures 2 is a rare and severe autosomal recessive neuromuscular disorder caused by pathogenic variants in ASCC1. This condition characterized by prenatal onset of severe hypotonia with fetal hypokinesia and congenital contractures results in arthrogryposis multiplex congenita, and increased ...
A. Civit, L. Kerbellec, D. Laurenceau, D. C. Ung, M. P. Moizard, N. Ronce, P. Gueguen, F. Laumonnier, A. C. Bréhin, F. Marguet, A. Laquerrière, A. M. Bergemer Fouquet, J. Cirier, S. Blesson, S. Arpin, M. Jeanne, M. L. Vuillaume   +16 more
wiley   +1 more source

Unraveling the link: serological and molecular insights into Toxoplasma gondii infection in women with spontaneous abortion history. [PDF]

Trop Dis Travel Med Vaccines
Arbabi N, Firouzeh N, Azizi SG, Mehravaran A, Etemadi S, Shafiei R, Mirahmadi H.   +6 more
europepmc   +1 more source

Benefit Mediates the Gratitude‐Morality Link and Political Ideology Moderates the Effect

Journal of Community &Applied Social Psychology, Volume 36, Issue 2, March/April 2026.
ABSTRACT We investigate the effects on the public of government and companies acting responsibly to a threat of an emerging pandemic by use of an adaptation of the theory of dyadic morality. The effects of positive actions by government and companies are mediated by gratitude, a positive moral emotion, en route to its impact on felt benefits.
Richard P. Bagozzi, Chunyan Xie, Silvia Mari   +2 more
wiley   +1 more source

Analysis of Treatment and Subsequent Pregnancy Outcomes in Patients With Antinuclear Antibody-Positive Recurrent Spontaneous Abortion. [PDF]

Immun Inflamm Dis
Wang A, Wu F, Liu M, Zhang Z, Li S, Tan Q.   +5 more
europepmc   +1 more source

A nomogram based on hematological parameters for prediction of spontaneous abortion risk in pregnancies. [PDF]

BMC Pregnancy Childbirth
Xiang J, Liu L, Bao R, Cai Z.
europepmc   +1 more source

LYN and CYBB are pivotal immune and inflammatory genes as diagnostic biomarkers in recurrent spontaneous abortion. [PDF]

Front Immunol
Wu Z, Lin Q, Zhou Z, Xie Y, Huang L, Sheng L, Shi Q, Ke Y.   +7 more
europepmc   +1 more source