Results 171 to 180 of about 314,865 (313)

Phenotypical and Genotypical Expansion of Autosomal‐Dominant KDM1A‐Related Neurodevelopmental Disorder Spectrum: A Case Report

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT KDM1A‐related neurodevelopmental disorder (CPRF, OMIM #616728) is characterized by cleft palate, global developmental delay, and distinct facial gestalt, but phenotypic knowledge of this ultra‐rare autosomal dominant disorder is limited. Here, we report on a 13‐year‐old boy with a novel heterozygous, likely pathogenic germline missense variant
Sebastian Burkart, Melanie Spanjaard, Lilian Kaufmann, Katrin Hinderhofer, Christian P. Schaaf, Markus Ries, Maja Hempel   +6 more
wiley   +1 more source

Hysteroembryoscopy in the management of recurrent early pregnancy loss. [PDF]

Arch Gynecol Obstet
Hortu I, Mutu C.
europepmc   +1 more source

Coping With Grief After Involuntary Pregnancy Loss: Perspectives of African American Women [PDF]

, 2003
Paulina Van, Afaf Ibrahim Meleis
openalex   +1 more source

The Expanding Clinical and Genetic Spectrum of Muscle Glycogen Storage Disease 0, (GSD0B)

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Glycogen storage disorders are a group of genetic disorders affecting glucose homeostasis in the body. Muscular glycogen stores are essential for liberating glucose for energy supply during bursts of activity and sustained muscle work. Muscle glycogen storage disease 0 (GSD0B) is associated with biallelic variants in GYS1 causing muscular ...
Sarah Donoghue, Smitha Kumble, Pontus Wasling, Lars Alberg, Pia Linton‐Dahlöf, Yilmaz Yildiz, İlker Ertuğrul, Terry Derks, Dwight Koeberl, Emmeline Lagrange, Sabrina Vergnaud, Lidia Pezzani, Maria Iascone, Zornitza Stark, Adam M. Bournazos, Sandra T. Cooper, Gittan Kollberg   +16 more
wiley   +1 more source

Erratum for Hugerth et al., “Assessment of In Vitro and In Silico Protocols for Sequence-Based Characterization of the Human Vaginal Microbiome”

mSphere, 2020
Luisa W. Hugerth, Marcela Pereira, Yinghua Zha, Maike Seifert, Vilde Kaldhusdal, Fredrik Boulund, Maria C. Krog, Zahra Bashir, Marica Hamsten, Emma Fransson, Henriette Svarre Nielsen, Ina Schuppe-Koistinen, Lars Engstrand   +12 more
doaj   +1 more source

Immunological Factors in Recurrent Pregnancy Loss: Mechanisms, Controversies, and Emerging Therapies. [PDF]

Biology (Basel)
Moustakli E, Potiris A, Zikopoulos A, Drakaki E, Arkoulis I, Skentou C, Tsakiridis I, Dagklis T, Drakakis P, Stavros S.   +9 more
europepmc   +1 more source

AP2M1 Is a Candidate Gene for Microcephaly and Intellectual Disability in 3q27.1 Deletions

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Deletions of the 3q26.33q27.2 region appear to correlate with a distinct phenotype, although there are few reported cases. Here, we present seven previously unreported individuals carrying de novo 3q27 deletions (under 5 Mb), which include the AP2M1 (adaptor‐related protein complex 2, mu‐1 subunit) gene and summarize data from 12 previously ...
Russell Gear, Paul Kalitsis, Melissa Glass, Bertrand Isidor, Catherine Vincent‐Delorme, Florence Petit, Judith M. A. Verhagen, Alexander Jorge, Ana Cristina Victorino Krepischi, Ikeoluwa Osei‐Owusu, Eva Martinez, Anne O'Donnell‐Luria, Nicole de Leeuw, Sarah Ruggiero, Ingo Helbig, Francis David I, Natasha J. Brown   +16 more
wiley   +1 more source

Investigation of the Endometrial Microbiome in Recurrent Pregnancy Loss Individuals: Microbial Imbalance and Network Fragility. [PDF]

Int J Womens Health
Zhang B, Lin S, Wang S, Chen W, Chen Y, Cao D, Liu Q, Yao Y.   +7 more
europepmc   +1 more source

Obstetric Implications of Antiphospholipid Antibodies: Pregnancy Loss and Other Complications

, 2001
W. P. Geis, D. Ware Branch
openalex   +1 more source

Glutathione S-transferase M1 and T1 polymorphisms and the risk of recurrent pregnancy loss [PDF]

, 2003
Fumihiro Sata
openalex   +1 more source