Results 131 to 140 of about 856,105 (317)

Complex Genetic Architecture in RASopathies: Constitutional PTPN11 and Mosaic RIT1 Pathogenic Variants Underlying Severe Noonan Syndrome With Adult‐Onset Acute Myeloid Leukemia

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Noonan syndrome (NS) is a genetically heterogeneous disorder characterized by a broad spectrum of clinical features resulting from dysregulation of the RAS/MAPK pathway. Although complex genotypes are increasingly recognized in NS, cases harboring two distinct pathogenic variants in different NS genes remain extremely rare.
Francesco Prevedello, Dario Seif Ali, Chiara Piccolo, Chiara Rigon, Monica Forzan, Elena Tacchetto, Roberta Palmitessa, Davide Calosci, Leonardo Salviati, Carmela Gurrieri, Eva Trevisson   +10 more
wiley   +1 more source

Dermatoglyphic findings in congenital clubfoot

, 2000
The dermatoglyphics of the hand of 33 male and 17 female, a total of 50 patients with congenital clubfoot deformity (CFD) were compared with those of 250 male and 250 female, a total 500 control cases. The most remarkable dermatoglyphic findings observed

core   +1 more source

Genomic Contributors to Congenital Diaphragmatic Hernia: Results of Exome Sequencing in 560 Probands and Cross Reference of Findings in an Independent Cohort

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT There is a strong genetic contribution to the etiology of congenital diaphragmatic hernia (CDH). This study evaluated genetic testing results and diagnostic yield for fetuses and children with CDH. This was a retrospective cohort study of exome sequencing (ES) performed at GeneDx for fetuses and children ≤ 18 years of age with CDH compared ...
Justin Blair, Kevin Carratu, Natalie E. Rintoul, Holly L. Hedrick, William H. Peranteau, Catherine M. Avitabile, Kirsty McWalter, Paul Kruszka, Ian D. Krantz, K. Taylor Wild   +9 more
wiley   +1 more source

Lymphatic Abnormalities in Noonan Syndrome Extend Beyond Clinically Apparent Disease

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Lymphatic disease represents a well‐described manifestation of Noonan syndrome (NS), yet the full phenotypic spectrum remains incompletely characterized, especially in asymptomatic individuals. We conducted a cross‐sectional study including 10 individuals with NS (four with peripheral lymphedema and six without) and 10 age‐ and sex‐matched ...
Inger Norlyk Sheyanth, Benjamin Kelly, Sheyanth Mohanakumar, Steffen Ringgaard, Yoav Dori, Irene Kibæk Nielsen, Uffe Birk Jensen, Vibeke Elisabeth Hjortdal   +7 more
wiley   +1 more source

Phenotype Expansion of Malan Syndrome: New Cases and a Review of the Literature

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Malan syndrome is an ultra‐rare overgrowth syndrome caused by pathogenic variants or deletions in nuclear factor one X (NFIX) located at 19p13.2. Here, we report a comprehensive literature review and phenotyping of known patients with Malan syndrome and present a novel cohort of eight patients.
Alex F. Nisbet, Sylvie A. Adams, Zoe S. Katz, Christal G. Delagrammatikas, Kosuke Izumi, Winifred Sigal, Kim Ventarola, Elaine H. Zackai, Julia E. Reid, Grant T. Liu, Jennifer M. Kalish   +10 more
wiley   +1 more source

De Novo Complex Genomic Rearrangement Spanning 2q31.1 in a Proband With Congenital Malformations: Genotype–Phenotype Correlation and Development of a CGR Detection Pipeline

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT The 2q31 region is commonly associated with pathogenic alleles of the HOXD cluster leading to various clinical phenotypes related to skeletal development. We present a proband with tetralogy of Fallot and multiple congenital anomalies. Genomic variant screening including an in‐house CGR detection pipeline pairing genome sequencing (GS ...
Katherine Helle, Jesse D. Bengtsson, Mira Gandhi, Christopher M. Grochowski, Ming Yin Lun, Neha Sudhir, Shalini N. Jhangiani, Fritz J. Sedlazeck, Seema R. Lalani, Neil A. Hanchard, Claudia M. B. Carvalho   +10 more
wiley   +1 more source

Safety and efficacy of transcatheter embolization for pulmonary arteriovenous fistula: a 21-year retrospective study

Frontiers in Cardiovascular Medicine
BackgroundThis study aimed to evaluate the safety and efficacy of transcatheter embolization (TCE) for pulmonary arteriovenous fistula (PAVF).MethodsFrom January 1, 2003 to December 31, 2024, 28 patients (13 male, 15 female) with 41 PAVFs underwent TCE ...
Hong Lu, Jianming Wang, Jiawang Xiao, Zhongchao Wang, Hui Yao, Benshen Li, Yuan Mi, Qiguang Wang   +7 more
doaj   +1 more source

Maternal intake of fat, riboflavin and nicotinamide and the risk of having offspring with congenital heart defects

, 2008
With the exception of studies on folic acid, little evidence is available concerning other nutrients in the pathogenesis of congenital heart defects (CHDs).
Rakhshandehroo, M., Ottenkamp, J., Steegers, Eric A. P., Smedts, Dineke, Steegers-Theunissen, Régine P. M., Verkleij-Hagoort, AC, Steegers, E.A.P., Steegers - Theunissen, Régine; id_orcid, Ottenkamp, J, Steegers, Eric, Steegers-Theunissen, R.P.M., Rakhshandehroo, M, de Vries, J.H.M., Ottenkamp, Jaap, Smedts, Huberdina P. M., Verkleij-Hagoort, Anna C., de Vries, Jeanne H. M., Rakhshandehroo, Maryam, Vries, J.H.M., de, de Vries, JHM, Verkleij-Hagoort, A.C., Smedts, H.P.M., Steegers - Theunissen, Régine   +22 more
core   +1 more source

Long‐Term Follow Up of Two Patients With Variants in the Cluster 1031‐1159 of TRRAP Gene: Expanding the Phenotype of Developmental Delay With or Without Dysmorphic Facies and Autism

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT The transformation/transcription domain‐associated protein (TRRAP) gene encodes a large multidomain protein, a member of the phosphatidylinositol 3‐kinase‐related kinase (PIKK) family. TRRAP is a component of the histone acetyltransferase (HAT) complex, and it plays an important role in gene transcription, DNA repair, and cell‐cycle regulation.
Roseli Maria Zechi‐Ceide, Vinicius Contrucci Dantas Segarra, Siulan Vendramini‐Pittoli, Henrique Regonaschi Serigatto, Luiza Virmond, Heloisa Marcelina da Cunha Palhares, Fernanda Jehee, Ana Cristina Victorino Krepischi, Carla Rosenberg, Carlos Henrique Paiva Grangeiro, Nancy Mizue Kokitsu‐Nakata   +10 more
wiley   +1 more source

UvA-DARE (Digital Academic Repository) Inactivating mutations in the gene for thyroid oxidase 2 (THOX2) and congenital hypothyroidism Link to publication Citation for published version (APA): INACTIVATING MUTATIONS IN THE GENE FOR THYROID OXIDASE 2 ( THOX

, 2020
. Inactivating mutations in the gene for thyroid oxidase 2 (THOX2) and congenital hypothyroidism. The New England journal of medicine, 347(2), 95-102.
Mutations, Congenital
core   +1 more source