Results 241 to 250 of about 989,931 (304)

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

Targeted Anti‐IL‐1 Immunomodulatory Therapy in Pediatric Onset PPP1R13L‐Related Arrhythmogenic Cardiomyopathy

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Autosomal recessive loss‐of‐function variants in PPP1R13L cause an ultra‐rare cardiocutaneous syndrome characterized by rapidly progressive arrhythmogenic cardiomyopathy (ACM). PPP1R13L encodes iASPP, which has two potentially overlapping mechanisms driving ACM as both a regulator of NFκB‐mediated inflammation and a binding partner within the ...
Aaron Renberg, Savannah Coppersmith, Owen Merritt, Amer Heider, Adam Helms, Thomas Michniacki, Jack Luxford, Sarah Josephi‐Taylor, Philip Roberts, Joshua Meisner   +9 more
wiley   +1 more source

The Homozygous p.(Arg215Ter) Variant in XRCC2 Is Associated With Atypical Fanconi Anemia Without Major Hematological Abnormalities in Childhood

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Fanconi Anemia (FA) is the most frequent inherited bone marrow failure syndrome. A role for the XRCC2 gene in FA was suspected in 2012 and confirmed in 2016, but only two affected individuals have been described thus far, and no long‐term follow‐up is available.
Sabina Cenciarelli, Giulia Bruna Marchetti, Maria Iascone, Maria Grazia Patricelli, Sara Giangiobbe, Gabriella Cinzia Pozzobon, Miriam Nella Savini, Fabio Giglio, Alessandro Aiuti, Paola Carrera, Francesca Ferrua, Angela Peron   +11 more
wiley   +1 more source

Diagnostic Odyssey of Atypical Long‐Chain 3‐Hydroxyacyl‐CoA Dehydrogenase Deficiency (LCHADD) Explained by Three Allelic Products From Two Pathogenic Variants

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Long‐chain 3‐hydroxyacyl‐CoA dehydrogenase deficiency (LCHADD) is an autosomal recessive mitochondrial defect of long‐chain fatty acid β‐oxidation, caused by biallelic pathogenic variants in HADHA or HADHB. We report a 22‐year‐old male with an atypically mild presentation of LCHADD who was referred to the Undiagnosed Diseases Network (UDN ...
Yutaka Furuta, Lynette C. Rives, T. Andrew Burrow, Thomas A. Cassini, Rory J. Tinker, Amy K. Robertson, Kimberly M. Ezell, Rizwan Hamid, Joy D. Cogan, John A. Phillips III   +9 more
wiley   +1 more source

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Ketonuria in normal pregnancy

International Journal of Gynecology & Obstetrics, 1987
Nine low-risk, clinically normal pregnant women tested their urine for ketone bodies at three- to four-day intervals throughout gestation. Eight of the women had acetoacetonuria present on two to 15 days each. This finding was not related to length of gestation or time of day. Ketonuria probably occurs sporadically in most normal pregnancies.
R A, Chez, F D, Curcio
openaire   +2 more sources

DYSPNOEA DURING NORMAL PREGNANCY

BJOG: An International Journal of Obstetrics & Gynaecology, 1978
SummaryThe incidence, severity and time‐course of dyspnoea were assessed in 62 women on eight occasions throughout a normal pregnancy. Fifteen per cent of subjects noticed an increase in dyspnoea in the first trimester compared with the non‐pregnant state and in almost half of them dyspnoea was experienced before 19 weeks gestation; 76 per cent ...
J A, Milne, A D, Howie, A I, Pack
openaire   +2 more sources

Immunology of normal pregnancy

Seminars in Fetal and Neonatal Medicine, 2006
Since Medawar's initial contemplations in 1953 on the mechanisms of immune evasion allowing for the survival of the allogeneic conceptus in an immunologically competent mother, physicians and immunologists alike have struggled to understand the immunological paradox of pregnancy.
Kjersti M, Aagaard-Tillery, Robert, Silver, Jess, Dalton   +2 more
openaire   +2 more sources

Haemostasis in Normal Pregnancy

Thrombosis and Haemostasis, 1984
SummaryA study has been undertaken in 72 women to provide systematic information on the changes that occur in a wide range of haemostatic variables during and after pregnancy. Factors VII, VIII :C, VIIIR:Ag, X, fibrinogen and α1 antitrypsin, rose markedly throughout pregnancy.
Y, Stirling, L, Woolf, W R, North, M J, Seghatchian, T W, Meade   +4 more
openaire   +2 more sources

Normal pregnancy

2011
Abstracts and keywords to be supplied.
Sabaratnam Arulkumaran, David I. M. Farquharson, Ash Monga, Aris T. Papageorghiou, Lesley Regan   +4 more
openaire   +1 more source

Coping in normal pregnancy

Annals of Behavioral Medicine, 2002
In high-risk populations (e.g., adolescents, substance abusers), coping strategies in pregnancy have been studied. Avoidance of the stressful situation and aggressive coping are frequently used and related to postnatal depression and other negative outcomes.
Huizink, AC, de Medina, PGR, Mulder, EJH, Visser, GHA, Buitelaar, J.K.   +4 more
openaire   +3 more sources