Results 221 to 230 of about 357,374 (288)

Genomic prediction via reaction norm models for pregnancy loss using temperature humidity index in brahman cattle. [PDF]

Transl Anim Sci
Cardona-Cifuentes D, de Albuquerque LG, Aguilar I, Arias M, Camaripano L, Gonzalez-Herrera LG, Mota LFM, Baldi F, Amorim ST.   +8 more
europepmc   +1 more source

Array Comparative Genomic Hybridization Analysis of Products of Conception in Recurrent Pregnancy Loss for specific anomalies detected by USG. [PDF]

Reprod Fertil
Gajjar K, Patel A, Patel B, Chettiar S, Jhala D.   +4 more
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

Estradiol trajectories and early pregnancy loss: a retrospective study. [PDF]

Front Endocrinol (Lausanne)
Wei Y, Wei X, Mu F, Wang F.
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

Associations of four insulin resistance indicators with subsequent pregnancy outcomes in women with recurrent pregnancy loss. [PDF]

Front Endocrinol (Lausanne)
Wang M, Mu F, Wang F.
europepmc   +1 more source

A Novel Splice Variant in ERGIC1 Causes Arthrogryposis Multiplex Congenita—Characterization Using Urine‐Derived Cells

American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.
ABSTRACT Arthrogryposis multiplex congenita (AMC) is defined as the presence of joint contractures affecting at least two body regions at birth. Three different ERGIC1 variants have been reported in individuals with AMC. Here, we report on a 16‐year‐old male with a homozygous ERGIC1 c.250+1G>A variant that was classified as a variant of uncertain ...
Lauren Kerr, Paul McKay, Juliana Marulanda, Zenghui Wu, Reggie Hamdy, Sena Tavukcu, Noémi Dahan‐Oliel, Frank Rauch   +7 more
wiley   +1 more source

Preconception sleep, pregnancy loss, and adverse pregnancy outcomes among women with a history of pregnancy loss. [PDF]

Hum Reprod
Freeman JR, Whitcomb BW, Bertone-Johnson ER, O'Brien LM, Dunietz GL, Purdue-Smithe AC, Kim K, Silver RM, Schisterman EF, Mumford SL.   +9 more
europepmc   +1 more source

Posthumously Diagnosed Myhre Syndrome Presenting With Pleural Remodeling and Endometrial Cancer

American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.
ABSTRACT Myhre syndrome (OMIM 139210) is a genetic condition defined by neurodevelopmental disability, characteristic facial features, and multisystem proliferative fibrosis. While various types of lung disease have been reported, pleural remodeling leading to restrictive lung disease has not yet been described.
Jeanette Saffir, Karee Morgan, Karigynn Chaimson, Blake E. Funke, Kim L. Sandler, Melissa Hogan, Thomas Cassini   +6 more
wiley   +1 more source

Blood-based biomarker discovery for early pregnancy loss using integrative multi-omics strategies. [PDF]

EBioMedicine
Shi Y, Yang Y, Guo X, Shi S, Li Q, Wang CC, Poon LC, Chung PW, Xia J, Wang YF, Lai X, Ni Y, Chen X, Wang Y.   +13 more
europepmc   +1 more source