Results 61 to 70 of about 136,946 (266)

Expanding the Utility of Exome Sequencing in Preventive and Population Genetics

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Carrier screening is a long‐standing genetic testing process offered to at‐risk couples, with or without a family history, who might have pregnancies affected by an autosomal recessive (AR) or X‐linked (XL) disorder. A total of 276 unrelated individuals, initially referred for rare disorder screening by clinicians, were enrolled in this study ...
Charilaos Kostoulas, Athanasia Sesse, Ioanna Bouba, Robert Najdecki, Spyridon Konitsiotis, Sofia Markoula, Ioannis Georgiou   +6 more
wiley   +1 more source

Antenatal corticosteroids [PDF]

Canadian Medical Association Journal, 2017
Julia, Kfouri, Rohan, D'Souza
openaire   +5 more sources

Utilization of maternal health care services in Belbari VDC of Eastern Region of Nepal

Journal of Nobel Medical College, 2012
Background: Appropriate utilization of maternal health care services is very important to reduce the maternal morbidity and mortality rate in the country and healthful practices while caring mother is needed to improve the health condition of both mother
Buna Bhandari, Baburam Pokhrel, Bimala Bhatta, Rajib Karn, Ava Pokhrel, Nilambar Jha   +5 more
doaj   +1 more source

Assessment of Growth in Cardio‐Facio‐Cutaneous Syndrome

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Cardio‐facio‐cutaneous (CFC) syndrome is a rare, multiple congenital anomaly disorder in which individuals commonly experience faltering growth; however, systematic analysis of growth parameters in this disorder has not been performed. We recruited 69 participants with CFC through CFC International and collected data on assessing height ...
Kari Johnston, Sandesh C. S. Nagamani, Bradley S. Miller, Katherine A. Rauen, Richard D. Boyce, Salma Musaad, Pilar L. Magoulas   +6 more
wiley   +1 more source

Psychiatric and Cognitive Features in Italian Women With the FMR1 Premutation: A Comprehensive Assessment Using SCID‐5 and Standardized Cognitive Measures

American Journal of Medical Genetics Part B: Neuropsychiatric Genetics, EarlyView.
ABSTRACT Women with the FMR1 premutation (PM) are at increased risk for fragile X‐associated conditions (FXPAC), including cognitive and psychiatric features collectively termed fragile X‐associated neuropsychiatric disorders (FXAND). This study is the first to systematically investigate cognitive and psychiatric features in Italian female premutation ...
Federica Alice Maria Montanaro, Randi J. Hagerman, Giuseppina Spano, Flora Tassone, Giancarlo Logroscino, Andrea Bosco   +5 more
wiley   +1 more source

Stillbirth rate and maternal risk factors for antenatal stillbirth in Bihar: A hospital-based cross-sectional study

Journal of Family Medicine and Primary Care
Background and Objectives: The prevalence and risk factors of stillbirths vary across geographical and socioeconomic contexts, extending beyond maternal and fetal factors. Many of these risks are preventable with quality pregnancy care. Prevention relies
Monika Gupta, Meena Samant, Jayoti Malhotra, Prit Pal Singh   +3 more
doaj   +1 more source

Investigating Male Presence at Antenatal and Choice of Place for Child Delivery in Ghana

Frontiers in Public Health, 2019
Male involvement in maternal health was introduced to improve and sustain maternal and child health in Ghana. The study utilized the 2014 Ghana Demographic and Health Survey data to investigate the relationship between male presence at antenatal and ...
Phidelia Theresa Doegah
doaj   +1 more source

Spectrum of Congenital Anomalies in Myhre Syndrome—Insights Into Effects Brought by Altered TGF‐β Signaling via Gain‐of‐Function Variants in SMAD4

American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.
ABSTRACT Myhre syndrome is a rare genetic disorder characterized by progressive multisystem involvement. Gain‐of‐function missense heterozygous variants affecting the Ile500 residue and Arg496 residue of the SMAD4 gene are implicated in this condition.
Kawmadi Gunawardena, Alessandro De Falco, Deborah Osio, Eleanor Sherlock, Emma Kivuva, Erina Sasaki, Francis H. Sansbury, Nayana Lahiri, Patricia Foley, Sahar Mansour, Shane McKee, Tazeen Ashraf, Nicola Brunetti‐Pierri, Usha Kini   +13 more
wiley   +1 more source

Review of the Molecular and Developmental Basis of Myhre Syndrome, Bench Research

American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.
ABSTRACT Myhre syndrome (MS) is a connective‐tissue disorder within the acromelic dysplasia spectrum. It is characterized by congenital craniofacial, skeletal, cutaneous anomalies, respiratory, cardiovascular along with intellectual disability, deafness, and progressive fibrosis.
Camille Viaut, Valerie Cormier‐Daire
wiley   +1 more source

THE COMPREHENSIVE MIDWIFERY CARE WITH NY. R IN DEPENDENT MIDWIFERY PRACTICE NURIL'S SIDOARJO

Indonesian Midwifery and Health Sciences Journal
Background: The maternal mortality rate in Indonesia in 2022 will be 189 / 100 thousand live births. This figure is still high when compared to the MMR target in 2024, namely 183 / 100 thousand live births.
Lidya Agustin Tjondro, Nurul Azizah
doaj   +1 more source