Results 281 to 290 of about 366,922 (396)

iPSC-Derived Cardiomyocytes as a Disease Model to Understand the Biology of Congenital Heart Defects [PDF]

Chithra K. Pushpan, S. Ram Kumar
openalex   +1 more source

Prenatal diagnosis of congenital heart defects: accuracy and discrepancies in a multicenter cohort

Ultrasound in Obstetrics and Gynecology, 2016
C. Velzen, S. Clur, M. Rijlaarsdam, E. Pajkrt, C. Bax, J. Hruda, C. D. Groot, Nico A. Blom, Nico A. Blom, M. Haak   +9 more
semanticscholar   +1 more source

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

Clinical Genetics, EarlyView.
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

Discovery of BMP10 as a new gene underpinning congenital heart defects

Binbin Dong
openalex   +1 more source

Prevalence and Nationality Distribution of Known and Novel Genetic Variants in Children With Primary Ciliary Dyskinesia in the State of Qatar

Clinical Genetics, EarlyView.
CT scan image of a 17‐year‐old female with primary ciliary dyskinesia (PCD) showing dextrocardia and bilateral bronchiectasis. The study describes genetic mutations affecting patients with PCD in Qatar and the corresponding clinical phenotype of affected patients.
Atqah AbdulWahab, Reem Mohamed, Amani Hamid, Hadeel Alzoubi, Donald R. Love, Kelly Robinson, Ibrahim Janahi, Mutasim Abu‐Hasan   +7 more
wiley   +1 more source

Prenatal Alcohol Exposure and Congenital Heart Defects: Retinoic Acid Deficiency as a Potential Mechanism in Dextro-Type Transposition of the Great Arteries. [PDF]

Pathophysiology
Paparella R, Putotto C, Fiore M, Colloridi F, Versacci P, Ceccanti M, Marino B, Tarani L.   +7 more
europepmc   +1 more source

Children with congenital heart defects : the impact of Down Syndrome on emotional and behavioural adjustment, participation in health related behaviours and parental beliefs.

, 2002
C. P. Wilson
openalex   +1 more source

Prevalence and Spectrum of Congenital Heart Disease in Individuals With Distal Chromosome 22q11.22–23 Deletions

Clinical Genetics, EarlyView.
The frequency and severity of congenital heart disease vary extensively in individuals with 22q11.22–23 distal deletions. Reduced gene dosage particularly within the low copy repeat (LCR22) D–E region including MAPK1 and HIC2 conveys risk for these defects.
Tanner J. Nelson, Daniel E. McGinn, T. Blaine Crowley, Lydia Rockart, Audrey Green, Victoria Giunta, Oanh Tran, Daniella Miller, Jeroen Breckpot, Ann Swillen, M. Cristina Digilio, Marta Unolt, Carolina Putotto, Federica Pulvirenti, Bruno Marino, Beverly S. Emanuel, Elaine H. Zackai, Zhengdong D. Zhang, Elizabeth Goldmuntz, Erik Boot, Anne S. Bassett, Bernice E. Morrow, Donna M. McDonald‐McGinn   +22 more
wiley   +1 more source

The Artificial Intelligence-Enhanced Echocardiographic Detection of Congenital Heart Defects in the Fetus: A Mini-Review. [PDF]

Medicina (Kaunas)
Suha KT, Lubenow H, Soria-Zurita S, Haw M, Vettukattil J, Jiang J.   +5 more
europepmc   +1 more source

YKT6 Is Essential for Male Fertility by Promoting Meiosis Progression During Spermatogenesis of Mice

Cell Proliferation, EarlyView.
Specifically ablating Ykt6 in pre‐meiotic germ cells and meiotic spermatocytes leads to complete sterility and meiotic arrest in conditional knockout male mice. YTK6 is required for stabilising intercellular bridges between spermatocytes due to its key role in maintaining protein homeostasis and vesicular transport‐dependent functions in spermatocytes,
Jie Cen, Xiaochen Yu, Ziqi Wang, Wenbo Liu, Jianze Xu, Qian Fang, Fei Gao, Yongzhi Cao, Hongbin Liu   +8 more
wiley   +1 more source