Results 291 to 300 of about 407,209 (362)

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

Preoperative digital 6-minute walk test reveals risk of postoperative pulmonary complications in patients undergoing heart valve surgery: a pilot feasibility study. [PDF]

PeerJ
Li L, Wang Y, Zhang Z, Luo Z, Wang W, Wang J, Liu X, Shi Y, Yuan T, Fan Y, Liang H, Guo Y, Wang B, Wang J, Deng J.   +14 more
europepmc   +1 more source

An International ASXL3 Natural History Study: Deep Phenotypic Analyses Including Detailed Reports of a Milder Phenotype, Novel Associations, and Clinical Recommendations

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Natural History Studies can help inform clinician and caregiver expectations, form the basis of management guidelines, and provide a comparator for therapeutic intervention. In rare conditions, where collection of prospective longitudinal data is untimely and impractical, quasi‐natural history data—from multiple individuals of different ages ...
E. Woods, N. Holmes, A. S. Denommé‐Pichon, M. Vincent, N. Belova, C. Gooch, B. Isidor, C. W. Ockeloen, E. Pavlidou, H. Stewart, V. J. M. Verhoeven, A. Ververi, A. Dixit, A. Sarkar, R. Legg, E. Reid, M. Balasubramanian   +16 more
wiley   +1 more source

Elastic Recoil and Deployment Asymmetry of the Transcatheter Heart Valve in Bicuspid Versus Tricuspid Anatomy. [PDF]

Catheter Cardiovasc Interv
Iskandar O, Layoun H, Ramu SK, Vannan JRRRM, Asala EA, Bhalla JS, Ghandakly E, Besir B, Yun J, Reed G, Puri R, Harb S, Krishnaswamy A, Kapadia SR.   +13 more
europepmc   +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

A Dedicated Transcatheter Heart Valve for Native Aortic Regurgitation in Patients With Significant Aortic Angulation. [PDF]

JACC Case Rep
Mendez Hirata G, Answini GA, Simone AE, Kereiakes DJ, Alirhayim Z, Seshiah P, Goel SS, Reardon M, Faza N, Kleiman NS, Garcia S.   +10 more
europepmc   +1 more source

Genotype–Phenotype Correlation in TTC7A‐Associated Gastrointestinal Defects and Immunodeficiency Syndrome 1

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Gastrointestinal defects and immunodeficiency syndrome 1 (GIDID1) is a rare autosomal recessive disorder caused by biallelic variants in TTC7A. GIDID1 is characterized by a broad clinical spectrum ranging from very early‐onset inflammatory bowel disease (VEOIBD) to multiple intestinal atresia (MIA) with or without immunological manifestations.
Julia Imhoff, Hans Christian Schmidt, Matthias Hans Belau, Johanna Hagens, Mario Lange, Daniel Tegtmeyer, Konrad Reinshagen, Frederike Leonie Harms, Christian Tomuschat   +8 more
wiley   +1 more source

Dexmedetomidine-enhanced chest wall fascial plane blocks in ultra-fast-track minimally invasive heart valve surgery: a randomized controlled trial. [PDF]

Perioper Med (Lond)
Jiang SJ, Jiang T, Wei HW, Lou XK, Wang Y, Yan MJ.   +5 more
europepmc   +1 more source

Precise sizing of aortic valvular leaflet reconstruction using 4-dimensional computerized tomography: A personalized approachCentral Message

JTCVS Techniques
Hani K. Najm, MD, MSc, Batool Barodi, MD, John P. Costello, MD, Munir Ahmad, MD, Lama Dakik, MD, Justin T. Tretter, MD   +5 more
doaj   +1 more source

Usefulness of Myocardial Injury Parameters in Predicting Prolonged Postoperative Use of Inotropes Drugs in Patients Undergoing Heart Valve Surgery. [PDF]

J Clin Med
Duchnowski P, Śmigielski W, Kołsut P.
europepmc   +1 more source