Results 101 to 110 of about 387,299 (307)

Smoking Habits, Nicotine Use, and Congenital Malformations

, 2006
OBJECTIVE: We examined whether maternal smoking and use of nicotine substitutes during the first 12 weeks of pregnancy increased the prevalence of congenital malformations in general and of certain congenital malformations in particular.METHODS: In the ...
Jorn Olsen, Bille, Camilla, Olsen, Jørn, Morales-Suárez-Varela, Maria M., Camilla Bille, Kaare Christensen, María M. Morales-Suárez-Varela, Christensen, Kaare; id_orcid   +7 more
core   +1 more source

A Novel Constitutional TUBB Variant Associated With Familial Malformations of Cortical Development

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Most pathogenic tubulin variants arise de novo in sporadic patients, causing severe brain malformations and significant neurodevelopmental impairment. The resulting reproductive disadvantage typically prevents these mutations from being transmitted to offspring.
Elena Cellini, Davide Mei, Mara Cavallin, Simona Fiori, Luciana Tramacere, Maria Elena Melica, Giulia Antonelli, Simona Virdò, Elena Parrini, Renzo Guerrini   +9 more
wiley   +1 more source

Heart Murmur in Neonates: How Often Is It Caused by Congenital Heart Disease [PDF]

Objective: Congenital heart disease (CHD) is the most common form of cardiovascular diseases in children. This study was performed from September 2006 to August 2007 in Ardebil, Westnorthern Iran.
انتشاری مقدم, افسانه, دوستکامی, حسین, میرزا رحیمی, مهرداد, عیسی زاده فر, خاطره, علی پور, رقیه, سعادتی, حکیمه   +5 more
core  

Risk of congenital anomaly in relation to residence near hazardous waste landfill sites. [PDF]

The main aim of this thesis is to investigate whether residence near hazardous waste landfill sites is associated with an increased risk of congenital anomaly.
Vrijheid, Martine
core   +1 more source

Severe Headbanging Responsive to Levodopa in a Child With FOXP1 Syndrome

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT We report a 9‐year‐old female with FOXP1 syndrome due to a de novo in‐frame deletion in the FOXP1 gene. The child has a severe neurodevelopmental disorder including global developmental delay and autism spectrum disorder. At age 2, she developed severe headbanging, which was progressive and did not respond to multidisciplinary, behavioral ...
Pamela Veale, Christopher Tiessen, Vithya Gnanakumar   +2 more
wiley   +1 more source

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

Estudo epidemiológico de malformações congênitas na Maternidade Carmela Dutra: período de 01 de setembro de 1992 a 31 de agosto de 1997. [PDF]

, 1998
Trabalho de Conclusão de Curso - Universidade Federal de Santa Catarina, Centro de Ciências da Saúde, Departamento de Clínica Médica, Curso de Medicina, Florianópolis ...
Guimarães, Márcia Regina
core  

Pesticide consumption, central nervous system and cardiovascular congenital malformations in the South and Southeast region of Brazil [PDF]

, 2014
Objectives: To investigate the association between per capita pesticide consumption and infant mortality rates from CNS and CVS congenital malformations in microregions in the South and Southeast Region of Brazil.
Ariana Camargo, Lima, Jaime, Cleber Cremonese, Meyer, Armando, Camargo, Ariana, Freire, Carmen, Carmen Freire, Sergio Koifman, Jaime Lima, Armando Meyer, Cremonese, Cleber, Koifman, Sergio   +11 more
core   +2 more sources

Expanding the Phenotypic Spectrum of TXNDC15‐Related Ciliopathies to Include Joubert Syndrome

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Biallelic loss‐of‐function variants in TXNDC15 are a known cause of the perinatally lethal ciliopathy Meckel syndrome (MKS). TXNDC15 encodes an endoplasmic reticulum (ER)‐resident thioredoxin‐domain protein required for ciliary transition zone integrity.
Zachary T. Sentell, Robert Geraghty, Juliana E. Arcila‐Galvis, Praveen Dhondurao‐Sudhindar, Sergio Foullerat Cañada, Fulvio D'Abrusco, Bosanka Jocic‐Jakubi, Miguel Barroso‐Gil, Valentina Serpieri, Thomas M. Kitzler, Kate E. Chandler, Eleanor G. Seaby, Gabrielle Wheway, Jennifer C. Dempsey, Dan Doherty, Enza M. Valente, John A. Sayer   +16 more
wiley   +1 more source

TTC21B: From Modifier to Causative Gene in Joubert Syndrome

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Biallelic pathogenic variants in TTC21B, encoding the retrograde intraflagellar transport protein IFT139, are a known cause of renal and skeletal ciliopathies. Single heterozygous variants in this gene were found to be enriched in a cohort of patients with various ciliopathy phenotypes, including three individuals with Joubert syndrome (JS), a
Valentina Serpieri, Fulvio D'Abrusco, Anna Pichiecchio, Thouraya Ben Younes, Ichraf Kraoua, Enza Maria Valente   +5 more
wiley   +1 more source