Results 151 to 160 of about 73,611 (316)

Anaesthetic implications of a case of hyperthyroidism detected during the closure of an atrial septal defect

, 2022
R Jeevan, Reesha Joshi, Jayashree Ramesh
openalex   +2 more sources

Detection of the Heterozygous Recurrent MAX p.(Arg60Gln) Variant in Two Females Confirms and Expands the Phenotypic Spectrum of Polydactyly–Macrocephaly Syndrome

Clinical Genetics, Volume 109, Issue 4, Page 788-795, April 2026.
We identified a recurrent heterozygous MAX c.179G>A:p.Arg60Gln variant in two unrelated females affected with the emerging phenotypes of MAX‐associated polydactyly‐macrocephaly syndrome. We propose that genitourinary abnormalities, including Mayer–Rokitanski–Kuster–Hauser syndrome in one individual, are an expansion of the known phenotypes associated ...
Iftekhar A. Showpnil, Neta Feinstein‐Goren, Lior Greenbaum, Ortal Barel, Daniel C. Koboldt, Samantha A. Brugmann, Kathryn Nicole Weaver, Anne Slavotinek, Ben Pode‐Shakked, Rolf W. Stottmann   +9 more
wiley   +1 more source

Nance‐Horan Syndrome: Further Delineation of the Affected Male and the Female Carrier Phenotypes

American Journal of Medical Genetics Part A, Volume 200, Issue 3, Page 642-652, March 2026.
ABSTRACT Nance‐Horan syndrome (NHS; OMIM 302350) is a rare, X‐linked syndrome characterized by bilateral congenital cataracts leading to profound vision loss, specific dental anomalies including characteristic screwdriver blade‐shaped incisors, facial anomalies, and intellectual disability.
Maria K. Haanpää, Chad R. Haldeman‐Englert, Marja Hietala, Melisa S. Tanverdi, Patrick P. Koty, Diana Brightman, Eniolami Dosunmu, Shailja Tibrewal, Savleen Kaur, Anupriya Kaur, Raj Kumar Verma, Alejandra G. de Alba Campomanes, Virginia Utz, Anne M. Slavotinek, Cynthia Curry   +14 more
wiley   +1 more source

P5486Vestibular atrial septal defects: a novel atrial septal defect [PDF]

European Heart Journal, 2018
R Loomba, D E Spicer, R H Anderson
openaire   +1 more source

Atrial Septal Defect–Associated Pulmonary Hypertension: Outcomes of Closure With a Fenestrated Device [PDF]

, 2019
Vishal R. Kaley, Nagib Dahdah, Amal El-Sisi, Jochen Grohmann, Éric Rosenthal, Matthew Jones, Gareth J. Morgan, Nicholas Hayes, Ashish H. Shah, Cemşit Karakurt, Masood Sadiq, Matthias Sigler, Hans R Figulla, Michael Becker, Nikolaus Haas, Eustaquio Onorato, Angel Puentes Rico, Supaporn Roymanee, Anselm Uebing, Walter Wiebe, Bennett P. Samuel, Ziyad M. Hijazi, Joseph J. Vettukattil   +22 more
openalex   +1 more source

Non‐RASopathy Genetic Syndromes Identified as the Molecular Cause of Disease in Patients Previously Diagnosed With Noonan Syndrome

American Journal of Medical Genetics Part A, Volume 200, Issue 3, Page 661-672, March 2026.
ABSTRACT Noonan Syndrome (NS) is a clinically and genetically heterogeneous condition characterized by typical facial dysmorphisms, short stature, congenital heart defects, and developmental delays. While variants in genes such as PTPN11, SOS1, and RAF1 account for most genetically confirmed cases, diagnosis is challenging due to phenotypic overlap ...
Gabriela Jeesoo Kim, Alexsandra Christianne Malaquias, Debora Romeo Bertola, Raissa Carneiro Rezende, Laurana De Polli Cellin, Lucas Vieira Lacerda Pires, Ana Maria Santillan‐Vasconez, Antônio Marcondes Lerario, Renata da Cunha Scalco, Alexander Augusto de Lima Jorge   +9 more
wiley   +1 more source

Cardiovascular defects associated with abnormalities in midline development in the Loop-tail mouse mutant [PDF]

, 2001
Anderson, RH, Conway, SJ, Copp, AJ, Gerrelli, D, Greene, NDE, Henderson, DJ, Murdoch, JN   +6 more
core   +1 more source

Heart Murmur in Neonates: How Often Is It Caused by Congenital Heart Disease [PDF]

Objective: Congenital heart disease (CHD) is the most common form of cardiovascular diseases in children. This study was performed from September 2006 to August 2007 in Ardebil, Westnorthern Iran.
انتشاری مقدم, افسانه, دوستکامی, حسین, سعادتی, حکیمه, علی پور, رقیه, عیسی زاده فر, خاطره, میرزا رحیمی, مهرداد   +5 more
core  

Diagnosis of endocardial cushion defect with cross-sectional and M-mode scanning echocardiography. Differentiation from secundum atrial septal defect. [PDF]

, 1976
Shintaro Beppu, Y Nimura, Shigekazu Nagata, M. Tamai, Hirohíde Matsuo   +4 more
openalex   +1 more source

Recurrent Constellations of Embryonic Malformations (RCEM): Teratogenicity Linked to Transient Hypoxia and Hormone Pregnancy Tests Agrees With RCEM and Suggest a Reactive Oxygen Species Pathogenesis

Birth Defects Research, Volume 118, Issue 3, March 2026.
ABSTRACT Background No consistent genetic etiology has been found for a group of six different conditions in humans with multiple malformations called “recurrent constellations of embryonic malformations” (RCEM). Recent studies indicate hypoxia/reoxygenation and generation Reactive Oxygen Species (ROS) as an underlying mechanism for RCEM with the ...
Aaron P. Adam, Helen E. Ritchie, Margaret P. Adam, Bengt R. Danielsson   +3 more
wiley   +1 more source