Results 261 to 270 of about 546,461 (357)

Neuroaxonal Dystrophy With Osteopetrosis Associated With a Novel Biallelic Nonsense Homozygous Variant in BORCS5

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Neuroaxonal dystrophy (NAD) with osteopetrosis syndrome (OMIM # 600329) was first reported in a consanguineous Moroccan Jewish family. However, to date, no genetic variant has been linked to this disease. We report on sibs, born to consanguineous Pakistani parents identified prenatally with cerebral ventriculomegaly and agenesis of the corpus ...
Yael Fisher, Orli Greenberg, Patrick Shannon, Andrea Staines, Bobbi McGivern, Melanie Patricia Napier, David Chitayat   +6 more
wiley   +1 more source

The influence of the choroid plexus on brain function: beyond its role in cerebrospinal fluid production. [PDF]

Inflamm Regen
Katada S, S Rodrigues K, Nakashima K.
europepmc   +1 more source

Artificial Intelligence Software Changes Rare Disease Testing Strategy in Real Time: An International Case Series Using Face2Gene

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Genetic disorders commonly share features such as developmental delays, cognitive impairment, and behavioral challenges, yet many conditions also present unique dysmorphic features that distinguish them. Performing a thorough medical and family history and a detailed physical exam with attention to dysmorphic features is often the first step ...
Natasha L. Rudy, Adriana Gomes, Tinatin Tkemaladze, Omar Abdul‐Rahman, Drew Cratsenberg, Giulia Pascolini, Giovanni Di Zenzo, Daniele Castiglia, Emily Black, Camerun Washington, Lauren Chad, Cynthia Curry, Miguel Del Campo, Nicole Fleischer, Lynne M. Bird, Anna C. E. Hurst   +15 more
wiley   +1 more source

Prostacyclin Therapy as Adjunctive Treatment for Pulmonary Hypertension in Pediatric Heart Transplantation: A Case Report. [PDF]

Pediatr Transplant
Konduri A, Sonnen AJ, Lim HM, Schumacher KR, Peng DM, Sood V, Olive MK, McCormick AD.   +7 more
europepmc   +1 more source

Partial Dilatation and Rupture of Left Ventricle of the Heart, with Effusion of Blood into the Pericardium; Post-Mortem Examination [PDF]

Marijane White
openalex   +1 more source

Maternal Sirolimus Treatment Reverses Cardiac Rhabdomyoma‐Induced Hydrops Fetalis in a Twin Gestation With Tuberous Sclerosis Complex

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Cardiac rhabdomyomas are often the presenting sign of tuberous sclerosis complex (TSC). Prior reports have shown that maternal sirolimus treatment can reduce rhabdomyomas. We used maternal sirolimus to reverse hydrops fetalis due to a massive cardiac rhabdomyoma in a twin gestation.
David M. Ritter, Kristin Schneider, Nkiru Ezeakudo, Darcy A. Krueger, Tomoyuki Mizuno, Timothy K. Knilans, David N. Franz   +6 more
wiley   +1 more source

Left atrial intramural hematoma following right atrial catheter ablation: A rare case involving coronary sinus injury. [PDF]

J Arrhythm
Hatsuno M, Kobayashi K, Tsutsui K, Watari Y, Kozuma K.   +4 more
europepmc   +1 more source

MCV/Q, Medical College of Virginia Quarterly, Vol. 15 No. 2 [PDF]

, 1979

core   +1 more source

Pulmonary Arterial Hypertension Onset in an Adult Woman With a TBX4 Likely Pathogenic Variant Following Imatinib Administration: A Case Report

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT The TBX4 gene has a critical importance in the development of the lower limbs and lungs. Pathogenic variants in this gene are associated with a variable spectrum of skeletal anomalies of the lower limb and pneumological manifestations, with dominant or recessive inheritance.
Simone Carbonera, Laura Scelsi, Alessandra Greco, Sandra Schirinzi, Annalisa Turco, Antonella Casella, Marta Carboni, Gaia Visani, Mauro Acquaro, Stefano Ghio, Silvia Kalantari, Enza Maria Valente, Fabio Sirchia   +12 more
wiley   +1 more source

Characterisation of Ventricular Nucleotide Metabolism and Clinical Predictors Associated with the Onset of Atrial Fibrillation Following Cardiac Surgery. [PDF]

J Clin Med
Fudulu DP, Dimagli A, Moscarelli M, Kota R, Dong T, Gemelli M, Sandhu M, Suleiman S, Angelini GD.   +8 more
europepmc   +1 more source