Results 191 to 200 of about 334,845 (260)

PUS7 Deficiency: Phenotypical Expansion of PUS7‐Related Neurodevelopmental Disorders

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Pathogenic variants in PUS7, encoding pseudouridine synthase 7, cause a rare neurodevelopmental disorder marked by intellectual disability, microcephaly, short stature, and behavioral disturbances. Since the first report in 2018, only 16 patients have been described.
Alice Muda, Barbara Belmessieri, Patrizia Accorsi, Jessica Galli, Edoardo Errichiello, Lucio Giordano   +5 more
wiley   +1 more source

Chronic Endometritis and Recurrent Pregnancy Loss: A review of evidence and underlying mechanisms. [PDF]

JBRA Assist Reprod
Álvares FCC, Sousa FTR, Oliveira ECF.
europepmc   +1 more source

Refining Domain‐Based Prognostication in DNM1 Encephalopathy: A Mild Phenotype Associated With a GTPase Domain Variant

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT DNM1 encephalopathy is a rare autosomal dominant genetic condition characterized by a range of neurological and developmental manifestations. The typical phenotype is severe, including profound intellectual disability, treatment‐resistant epilepsy, ataxia, and structural brain abnormalities. However, milder presentations have increasingly been
Caroline Crain, Hope Northrup, Laura S. Farach, Sureni V. Mullegama, Kathleen Shields, Gretchen Von Allmen, Kate Richardson   +6 more
wiley   +1 more source

Guided internet-delivered compassion-focused therapy for women with recurrent pregnancy loss: A protocol of a randomized controlled trial. [PDF]

PCN Rep
Ito Y, Kawai Iwasaki Y, Asano K, Toshimitsu M, Sakakibara E, Yumura H, Kanamori Y, Kamo S, Doi SK, Sasaki N, Imamura K, Kumasawa K, Iriyama T, Nishi D.   +13 more
europepmc   +1 more source

Regional correlation study of obstetrician maldistribution and its impact on pregnancy loss outcomes in Japan amid declining fertility. [PDF]

BMJ Public Health
Kuriki K, Nakatani E, Sato Y.
europepmc   +1 more source

Descriptive Epidemiology From the Myhre Syndrome Foundation Registry: The Value of Self‐Reported Data

American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.
ABSTRACT Myhre syndrome is an ultrarare genetic disease characterized by short stature, distinct craniofacial features, cardiovascular and respiratory fibrosis and stenosis, neurodevelopmental delays, autism, intellectual disability, and hearing loss. The natural history of Myhre syndrome is still not fully understood due to a small patient population ...
Mary K. Young, Armelle Pindon, Maggie R. Brand, Kate Wears, Katherine H. Young, Alyssa Mendel, Michael J. Lyons   +6 more
wiley   +1 more source

Sex Hormones-Mediated Modulation of Immune Checkpoints in Pregnancy and Recurrent Pregnancy Loss. [PDF]

Int J Mol Sci
Zych M, Roszczyk A, Zakrzewska M, Zagożdżon R, Pączek L, Dąbrowski FA, Kniotek MJ.   +6 more
europepmc   +1 more source

Spectrum of Congenital Anomalies in Myhre Syndrome—Insights Into Effects Brought by Altered TGF‐β Signaling via Gain‐of‐Function Variants in SMAD4

American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.
ABSTRACT Myhre syndrome is a rare genetic disorder characterized by progressive multisystem involvement. Gain‐of‐function missense heterozygous variants affecting the Ile500 residue and Arg496 residue of the SMAD4 gene are implicated in this condition.
Kawmadi Gunawardena, Alessandro De Falco, Deborah Osio, Eleanor Sherlock, Emma Kivuva, Erina Sasaki, Francis H. Sansbury, Nayana Lahiri, Patricia Foley, Sahar Mansour, Shane McKee, Tazeen Ashraf, Nicola Brunetti‐Pierri, Usha Kini   +13 more
wiley   +1 more source

Integrative Multi-Omics Analysis Unveils Biomarkers Linking the Gut Microbiota, Blood Metabolites, and Recurrent Pregnancy Loss. [PDF]

Int J Womens Health
Hao W, Song R, Lv H, Song C.
europepmc   +1 more source