Results 61 to 70 of about 607,006 (296)

Dual Aberrant Splicing Caused by an Apparently Missense CHD7 Variant, c.5273A>G (p.Asp1758Gly), in CHARGE Syndrome

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT CHARGE syndrome is a rare congenital disorder primarily attributed to heterozygous pathogenic variants of the CHD7 gene. Most pathogenic CHD7 variants are loss‐of‐function (LoF) variants, whereas the interpretation of missense variants remains challenging in the absence of functional evidence for their pathogenicity.
Takashi Okuno, Tatsuto Shimizu, Aiko Igarashi, Kazumi Ikeda, Masamichi Ikawa, Sumihito Togi, Hiroki Ura, Yo Niida, Katsutsugu Umeda   +8 more
wiley   +1 more source

EUROlinkCAT - Establishing a Linked European Cohort of Children with Congenital Anomalies: relatório final de projeto [PDF]

, 2022
Cerca de 2% de todos os nascidos vivos na Europa (cerca de 50.000 nascimentos por ano) apresentam uma anomalia congénita (AC) e 80% destas são doenças raras.
Braz, Paula, Machado, Ausenda, Santos, Ana João, Matias Dias, Carlos   +3 more
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First Report of Uniparental Isodisomy of Chromosome 15 Revealing Angelman Syndrome and Microphthalmia Associated With a Novel Homozygous ALDH1A3 Variant

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Paternal isodisomy of chromosome 15 (iUPD15) is a recognized cause of Angelman syndrome (AS), accounting for approximately 2%–5% of cases. Additionally, another recognized consequence of iUPD is the unmasking of autosomal recessive disorders. However, reports of recessive disorders resulting from iUPD15 remain scarce in the literature.
Gabriela Roldão Correia‐Costa, Joana Rosa Marques Prota, Antonia Paula Marques‐de‐Faria, Carlos Eduardo Steiner, Társis Paiva Vieira   +4 more
wiley   +1 more source

PLACENTAL LESIONS RELATED TO MATERNAL VASCULAR MALPERFUSION: A HISTOPATHOLOGICAL REVIEW

The Egyptian Journal of Histology
Background : The placenta is a dynamic organ essential for fetal and maternal health. Among its pathologies, maternal vascular malperfusion (MVM) represents a major cause of adverse pregnancy outcomes, including preeclampsia, intrauterine growth ...
chaimae hilali, sara Aboulaghras, Asmaa Mdaghri Alaoui, Najat Lamalmi, Mounia Yousfi Malki   +4 more
doaj   +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

Differential Diagnosis of Mucopolysaccharidoses Types I, II, III, IVA, and VI Through Analysis of Leukocytic Inclusions

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Mucopolysaccharidoses (MPS) are lysosomal storage disorders characterized by the accumulation of glycosaminoglycans (GAGs), which can lead to cytoplasmic alterations in leukocytes. The objective of this study was to characterize leukocyte inclusions in patients with different types of MPS and assess their diagnostic relevance.
Márcio A. W. Melo, Marcelo S. Kertenetzky, Cristina M. Silveira, Maíra M. Ribeiro, Paula F. Medeiros, Gabriela S. Arcanjo   +5 more
wiley   +1 more source

Impact of pre-pregnancy diabetes mellitus on congenital anomalies, Canada, 2002–2012

, 2015
Objective: To examine the impact of pre-pregnancy diabetes mellitus (DM) on the population birth prevalence of congenital anomalies in Canada. Methods: We carried out a population-based study of all women who delivered in Canadian hospitals (except those
K. S. Joseph, J. Rouleau, Canadian Perinatal Surveillance System, J. G. Ray, S. Liu, R. Sauve, J. A. León   +6 more
core   +1 more source

Milestone Attainment in Young Children With Arthrogryposis Multiplex Congenita: Developmental Profile and Associated Factors

American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.
ABSTRACT Evidence on developmental milestones in children with arthrogryposis multiplex congenita (AMC) under the age of five is scarce. This multisite cross‐sectional study described developmental status and examined factors associated with milestone attainment in 143 children aged 0–66 months from a pediatric AMC Registry.
Ahlam Zidan, Sophia C. Pasia, Emmanouil Rampakakis, Reggie Hamdy, Frank Rauch, Lauren C. Hyer, Joel Lerman, Haluk Altiok, Krister Freese, Cary Mielke, Sarah B. Nossov, Philip F. Giampietro, Thania Ordaz‐Robles, Noémi Dahan‐Oliel   +13 more
wiley   +1 more source

Spinal Involvement in a Pediatric and Adult Cohort of Patients With Arthrogryposis Multiplex Congenita

American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.
ABSTRACT This was a single‐center retrospective observational study with national recruitment from October 2007 to March 2022 at the AMC clinic of the University Hospital Grenoble Alpes (CHUGA). Participants underwent a clinical spinal assessment and spine radiography.
Alicia Mom, Véronique Bourg, Shenhao Dai, Alicia‐Marine Milot, Dominic Perennou, Klaus Dieterich   +5 more
wiley   +1 more source

Congenital anomalies of the heart [PDF]

, 1919
Cover-title.Bibliography: p.55-102.Mode of access ...
Poynter, C. W.M., Poynter, Charles William McCorkle, 1875-   +1 more
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