Results 301 to 310 of about 432,494 (360)

Transplacental transfer of ravulizumab in a pregnant woman with neuromyelitis optica: a case report. [PDF]

BMJ Neurol Open
Jacob A, Mahmoud A, Eldweik L, Mubashir A.   +3 more
europepmc   +1 more source

De Novo Heterozygous ZFX Frameshift Variant in a Female With an X‐Linked Neurodevelopmental Disorder

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Germline ZFX variants are associated with an X‐linked neurodevelopmental disorder, with 14 males and 16 females reported to date. We describe a 20‐year‐old female with a heterozygous ZFX frameshift variant, p.(Met666Valfs*2), identified by genome sequencing, previously reported in an affected male.
Iftekhar A. Showpnil, Allison Daley, Emily R. Sites, Shayne M. Plourde, Jesse M. Hunter, Dennis W. Bartholomew, April N. Lehman, Daniel C. Koboldt, Rolf W. Stottmann   +8 more
wiley   +1 more source

Ex-Utero Intrapartum Treatment for a Fetal Cervical Teratoma with Mediastinal Extension: A Case Report. [PDF]

Am J Case Rep
Crew M, Eason CR, Breckenfelder C, Jaggers J, Gitomer SA, Reynolds RM, Zaretsky MV, Derderian SC.   +7 more
europepmc   +1 more source

A Novel Missense Variant in LMX1A Leads to Autosomal Dominant Nonsyndromic Hearing Loss

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Hereditary nonsyndromic hearing loss (NSHL) is a prevalent entity associated with over 150 known causative genes, including LMX1A, which has fewer than 10 reported pathogenic variants. Here we present a novel missense variant in LMX1A in a family of European descent with hereditary hearing loss. Clinical and family histories were obtained, and
Ryan Chen, Dayna Morel Swols, Guney Bademci, Mustafa Tekin   +3 more
wiley   +1 more source

A Neonate with FNAIT Supported by Placental Chronic Histiocytic Intervillositis and Confounded by Maternal Preeclampsia: A Case Report. [PDF]

AJP Rep
White H, Sybenga A.
europepmc   +1 more source

Non‐Invasive Prenatal Testing by Cell‐Free DNA (cfNIPT) for Detecting Turner Syndrome With Mosaicism and Structural Variants—Prenatal Findings and Postnatal Outcomes

American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.
ABSTRACT Turner Syndrome (TS) is a sex chromosomal disorder associated with karyotype heterogeneity. Although TS can be associated with severe prenatal findings, most often linked to the 45, X karyotype, the majority of TS fetuses have no overt phenotype, resulting in delayed diagnosis and management.
Ivonne Bedei, Johanna Bruder, Ida C. B. Lund, Simon H. Thomsen, Ida Vogel, Andrea T. Maciel‐Guerra, Francisco Alvarez‐Nava, Melissa L. Crenshaw, Roland Axt‐Fliedner, Claus H. Gravholt, Anne Skakkebæk   +10 more
wiley   +1 more source

Herbivory Dominates the Spring Diet of American Black Bears (<i>Ursus americanus</i>) in a Wood Bison (<i>Bison bison athabascae</i>) Neonatal Range, Suggesting Minimal Bison Consumption. [PDF]

Ecol Evol
Sharp ME, Nielsen SE, Edwards MA.
europepmc   +1 more source

Repurposing With Purpose: Treatment of Bachmann–Bupp Syndrome With Eflornithine and Implications for Other Polyaminopathies

American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.
ABSTRACT Rare diseases impact approximately 1 in 10 people worldwide, and yet, less than 5% of all rare diseases currently have an approved treatment option available. This is due to many challenges unique to rare diseases, including small, diverse patient populations, the cost of drug development that is not proportionate to the number of patients who
Caleb P. Bupp, Elizabeth A. VanSickle, Julianne Michael, Chad R. Schultz, Kelly Nguyen, Melissa Hoefer, Surender Rajasekaran, André S. Bachmann   +7 more
wiley   +1 more source

Optimizing Perioperative Glycaemic Control with Continuous Glucose Monitoring in Pregestational Diabetes: Feasibility and Comparative Analysis of Two Systems: A Pilot Study. [PDF]

J Clin Med
Kacperczyk-Bartnik J, Urban A, Bartnik P, Świderczak P, Malinowska-Polubiec A, Bender A, Romejko-Wolniewicz E, Czajkowski K, Sieńko J.   +8 more
europepmc   +1 more source

Utility of point-of-care ultrasound of the liver in the neonatal intensive care unit: experience from a case series. [PDF]

Front Pediatr
Sohane A, Deshpande S, Nagpal R, Singh Y, Suryawanshi P.   +4 more
europepmc   +1 more source