Results 171 to 180 of about 1,448,973 (364)

Anxiety, depression, and quality of life in mothers of newborns with microcephaly and presumed congenital Zika virus infection [PDF]

, 2016
Sheila Jaqueline Gomes dos Santos Oliveira, Emanuela Santos de Melo, Daniele Machado Reinheimer, Ricardo Queiroz Gurgel, Victor Santana Santos, Paulo Ricardo Martins‐Filho   +5 more
openalex   +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

Improved Surgical Outcomes in Adults with Congenital Heart Disease and Decompensated Heart Failure: The Role of Perioperative Medical Optimization

, 2023
А.В. Минаев, Podzolkov Vp, Timur Yurievich Danilov, М.Р. Чиаурели, Bupe Mumba Mwela, В.И. Донцова   +5 more
openalex   +2 more sources

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

Congenital and Neonatal Malaria in Ethiopia: A Narrative Review. [PDF]

J Parasitol Res
Leake Y, Hagos HH, Reta BK.
europepmc   +1 more source

Congenital hypothyroidism [PDF]

Journal of Pediatric Endocrinology and Metabolism, 2018
Wieland, Kiess, Melanie, Penke, Julia, Gesing, Annette, Stoltze, Antje, Körner, Roland, Pfäffle, Jürgen, Kratzsch   +6 more
openaire   +2 more sources

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

A rare case report: Tetralogy of Fallot, right aortic arch, isolated left subclavian from patent ductus arteriosus, neonatal aortopulmonary window, and hypoplastic right pulmonary arteryCentral Message

JTCVS Techniques, 2022
Nicholas Oh, MD, Tara Karamlou, MD, MSc, Robert Stewart, MD, Munir Ahmad, MD, John Lane, MD, C.R. Patel, MD, Hani K. Najm, MD, MSc   +6 more
doaj   +1 more source

Assignment of a Novel Locus for Autosomal Recessive Congenital Ichthyosis to Chromosome 19p13.1-p13.2 [PDF]

, 2000
Elina Virolainen, Maija Wessman, Iiris Hovatta, Kirsti‐Maria Niemi, Jaakko Ignatius, Juha Kere, Leena Peltonen, Aarno Palotie   +7 more
openalex   +1 more source