Results 71 to 80 of about 232,832 (287)

De Novo Heterozygous ZFX Frameshift Variant in a Female With an X‐Linked Neurodevelopmental Disorder

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Germline ZFX variants are associated with an X‐linked neurodevelopmental disorder, with 14 males and 16 females reported to date. We describe a 20‐year‐old female with a heterozygous ZFX frameshift variant, p.(Met666Valfs*2), identified by genome sequencing, previously reported in an affected male.
Iftekhar A. Showpnil, Allison Daley, Emily R. Sites, Shayne M. Plourde, Jesse M. Hunter, Dennis W. Bartholomew, April N. Lehman, Daniel C. Koboldt, Rolf W. Stottmann   +8 more
wiley   +1 more source

Gestational weight gain in overweight and obese women enrolled in a healthy lifestyle and eating habits program [PDF]

, 2013
OBJECTIVES: To determine whether changes in lifestyle in women with BMI > 25 could decrease gestational weight gain and unfavorable pregnancy outcomes.
Battistini, N. C, Bertarini, V, FACCHINETTI, Fabio, Malavolti, M, NERI, Isabella, PETRELLA, Elisabetta, Pignatti, Lucrezia   +6 more
core   +1 more source

Nance‐Horan Syndrome: Further Delineation of the Affected Male and the Female Carrier Phenotypes

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Nance‐Horan syndrome (NHS; OMIM 302350) is a rare, X‐linked syndrome characterized by bilateral congenital cataracts leading to profound vision loss, specific dental anomalies including characteristic screwdriver blade‐shaped incisors, facial anomalies, and intellectual disability.
Maria K. Haanpää, Chad R. Haldeman‐Englert, Marja Hietala, Melisa S. Tanverdi, Patrick P. Koty, Diana Brightman, Eniolami Dosunmu, Shailja Tibrewal, Savleen Kaur, Anupriya Kaur, Raj Kumar Verma, Alejandra G. de Alba Campomanes, Virginia Utz, Anne M. Slavotinek, Cynthia Curry   +14 more
wiley   +1 more source

Breastfeeding mobile application for mothers with gestational diabetes mellitus: designed by mothers and experts

BMC Public Health, 2022
Background Mothers and babies with gestational diabetes have an increased risk of diabetes, obesity, and cardiovascular complications. Breastfeeding is known to help reduce complications in mothers and babies with gestational diabetes.
Seungmi Park, Eunju Kwak, Jisan Lee
doaj   +1 more source

Birthweight and risk markers for type 2 diabetes and cardiovascular disease in childhood: the Child Heart and Health Study in England (CHASE). [PDF]

, 2015
AIMS/HYPOTHESIS: Lower birthweight (a marker of fetal undernutrition) is associated with higher risks of type 2 diabetes and cardiovascular disease (CVD) and could explain ethnic differences in these diseases. We examined associations between birthweight
A Bavdekar, A Lucas, Alicja R. Rudnicka, Angela S. Donin, AS Donin, AS Donin, B Park, BJ McNamara, C Li, C Thomas, Cathy M. McKay, CG Owen, Christopher G. Owen, Claire M. Nightingale, CM Law, CM Nightingale, CM Nightingale, CS Yajnik, DA Lawlor, Debbie A. Lawlor, Derek G. Cook, DJ Barker, DL Kuh, F Mzayek, GV Krishnaveni, I Shai, J West, JC Levy, Jennifer L. Bales, MC Franco, MR Skilton, Naveed Sattar, Office for National Statistics, P Fossati, Peter H. Whincup, PH Whincup, PH Whincup, PH Whincup, PH Whincup, PH Whincup, Phillip J. Steer, R Huxley, R Huxley, R Huxley, R Pfister, RS Bhopal, S Kodama, SH Wild, Sian L. Newton, SM Sayers, T Kaneshi, WB White, YK Tu   +52 more
core   +2 more sources

Non‐RASopathy Genetic Syndromes Identified as the Molecular Cause of Disease in Patients Previously Diagnosed With Noonan Syndrome

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Noonan Syndrome (NS) is a clinically and genetically heterogeneous condition characterized by typical facial dysmorphisms, short stature, congenital heart defects, and developmental delays. While variants in genes such as PTPN11, SOS1, and RAF1 account for most genetically confirmed cases, diagnosis is challenging due to phenotypic overlap ...
Gabriela Jeesoo Kim, Alexsandra Christianne Malaquias, Debora Romeo Bertola, Raissa Carneiro Rezende, Laurana De Polli Cellin, Lucas Vieira Lacerda Pires, Ana Maria Santillan‐Vasconez, Antônio Marcondes Lerario, Renata da Cunha Scalco, Alexander Augusto de Lima Jorge   +9 more
wiley   +1 more source

GATA3 Deletion Associated With Juvenile Idiopathic Arthritis: Expanding the Phenotypic Spectrum of Hypoparathyroidism, Sensorineural Deafness, and Renal Dysplasia (HDR) Syndrome

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Hypoparathyroidism, sensorineural deafness, and renal dysplasia (HDR) syndrome is caused by pathogenic variants in the GATA3 gene located on chromosome 10p14. Here we present a 10‐year‐old girl with HDR syndrome who also has oligoarticular juvenile idiopathic arthritis (JIA).
Lauren N. Meiss, Amanda V. Karam, Julia Shalen, David E. Tunkel, Belina Y. Yi, Kelsey S. Guthrie, Emily M. Kudalkar, Anna E. Patrick, Sonja A. Rasmussen   +8 more
wiley   +1 more source

Gestational Diabetes as a Predictor of Sexual Dysfunction in Pregnant Women

Journal of Holistic Nursing and Midwifery, 2021
Introduction: Pregnancy is associated with changes in sexual function and perhaps many more sexual problems when accompanied by particular disorders such as gestational diabetes.
Ommolbanin Zare, Masoumeh Simbar, Giti Ozgoli, Adeleh Bahar, Hamid Alavi Majd   +4 more
doaj  

Neighborhood Typology and Cardiometabolic Pregnancy Outcomes in the Maternal Adiposity Metabolism and Stress Study. [PDF]

, 2019
ObjectiveThis study aimed to assess associations between neighborhood typologies classified across multiple neighborhood domains and cardiometabolic pregnancy outcomes and determine variation in effectiveness of a mindfulness-based stress-reduction ...
Adler, Nancy, Coleman-Phox, Kimberly, Epel, Elissa, Headen, Irene, Laraia, Barbara, Vieten, Cassandra   +5 more
core   +1 more source

Respiratory Involvement in HIST1H1E‐Related Rahman Syndrome: A Case of Severe Mixed Apnea

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Rahman syndrome (HIST1H1E‐related neurodevelopmental syndrome, OMIM #617537) is a rare autosomal‐dominant condition caused by truncating variants in the C‐terminal domain of the HIST1H1E gene. It is characterized by macrocephaly, hypotonia, craniofacial anomalies, and multisystem anomalies.
Nada Barakat, Marjolaine Champagne, Mathieu Bergeron, Philippe Dodin, Nadia Roumeliotis   +4 more
wiley   +1 more source