Results 121 to 130 of about 64,359 (215)

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

Effect of alpha-lipoic acid and myoinositol on endometrial inflammation in women with unexplained recurrent pregnancy loss. [PDF]

Arch Gynecol Obstet
Tersigni C, Street ME, Castellani R, Di Nicuolo F, Onori M, Catellani C, Barbaro G, Ticconi C, Di Simone N.   +8 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

The Impact of Congenital Anomalies of the Male and Female Reproductive Organs on Infertility and Recurrent Pregnancy Loss: A Review. [PDF]

Medicina (Kaunas)
Petrovic B, Kostic S, Jovanovic IM, Petronijevic M, Petronijevic M, Hudic I, Vrzic Petronijevic S.   +6 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

Mechanisms and Therapeutic Implications of Microbiome-Mediated Immune Dysregulation in Recurrent Pregnancy Loss and Implantation Failure. [PDF]

Am J Reprod Immunol
Bahia W, Soltani I, Ferchichi S, Almawi WY.   +3 more
europepmc   +1 more source

The EXPLAIN Study: Exploring Arthrogryposis Multiplex Congenita in Adults in Norway — A Description of Demographic, Medical, and Neurological Findings

American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.
ABSTRACT Arthrogryposis Multiplex Congenita (AMC) encompasses several hundred conditions with diverse genetic, pathophysiological, and clinical origins. The overarching EXPLAIN study explores underlying causes and implications of AMC and represents the largest clinical cohort of adults with AMC reported to date.
My Vuong Hermansen, Kristin Ørstavik, Unni Steen, Mathias Toft, Cathrine Brunborg, Lena Lande Wekre   +5 more
wiley   +1 more source

Genetic Polymorphisms of Vitamin D Receptor and Immune-Metabolic Mechanisms in Recurrent Pregnancy Loss: Narrative Review. [PDF]

Biology (Basel)
Aimagambetova G, Nemr R, Atageldiyeva K, Almawi WY.   +3 more
europepmc   +1 more source

Inflammatory Signatures Beyond Th1/Th2 Endotypes Provide Insights Into Postoperative Recurrence in Chronic Rhinosinusitis

International Forum of Allergy &Rhinology, EarlyView.
ABSTRACT Background Chronic rhinosinusitis (CRS) represents a spectrum of inflammatory endotypes, driven by distinct T helper (Th) immune responses. The high rate of recurrent disease despite appropriate medical and surgical interventions highlights the need for improved characterization beyond the traditional type 2 and non‐type 2 phenotypes to better
Liyona Kampel, Narin N. Carmel, Shaun Edalati, Hen Chaushu, Forsan Jahshan, Yaniv Hadi, Timur Pestrikov, Leonor Leider Trejo, Nidal Muhanna, Avraham Abergel   +9 more
wiley   +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