Results 141 to 150 of about 64,247 (285)

Recurrent pregnancy loss: An outcome of cytokine breach at materno-embryonic interface [PDF]

, 2020
Shafat Ali, Sabhiya Majid, Md. Niamat Ali, Shahnaz Taing, Muneeb U. Rehman   +4 more
openalex   +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, EarlyView.
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

Toward clarity: why we need to standardize the term 'recurrent pregnancy loss'. [PDF]

JBRA Assist Reprod
Pretto L, Nabinger E, Montenegro IS, Sanseverino MTV, Artigalás O, Vianna FSL, Passos EP, Fraga LR.   +7 more
europepmc   +1 more source

Whole exome sequencing revealed a heterozygous elongation factor Tu GTP-binding domain containing 2 (EFTUD2) mutation in a couple experiencing recurrent pregnancy loss

, 2021
Mei Yang, Huaqin Sun, Yanyan Liu, Ting Hu   +3 more
openalex   +1 more source

Can preconception hematologic and biochemical parameters predict the subsequent pregnancy loss in patients with recurrent pregnancy loss? [PDF]

BMC Pregnancy Childbirth
Mu F, Ran B, Liu L, Yan Y, Wang F.
europepmc   +1 more source

Association of Complement Factor D and H Polymorphisms with Recurrent Pregnancy Loss [PDF]

, 2019
Hee Young Cho, Han Sung Park, Eun Ju Ko, Chang Soo Ryu, Jung Oh Kim, Young Ran Kim, Eun Hee Ahn, Woo Sik Lee, Nam Keun Kim   +8 more
openalex   +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

Linking the metals to metabolism in recurrent pregnancy loss through untargeted metabolomics and machine learning. [PDF]

Front Endocrinol (Lausanne)
Liu C, Liu L, Ran B, Wu Y, Wang F.
europepmc   +1 more source

IDENTIFYING THE GENETIC ETIOLOGY OF INFERTILITY AND RECURRENT PREGNANCY LOSS THROUGH A LARGE-SCALE WHOLE GENOME SEQUENCING DATASET [PDF]

Roni Zemet, Erik Stricker, Elizabeth J. Atkinson, Ignatia B. Van den Veyver   +3 more
openalex   +1 more source

3′-UTR Polymorphisms in the Vascular Endothelial Growth Factor Gene (VEGF) Contribute to Susceptibility to Recurrent Pregnancy Loss (RPL) [PDF]

, 2019
Hui Jeong An, Ji Hyang Kim, Eun Hee Ahn, Young Ran Kim, Jung Oh Kim, Han Sung Park, Chang Soo Ryu, Eun-Gyo Kim, Sung Hwan Cho, Woo Sik Lee, Nam Keun Kim   +10 more
openalex   +1 more source