Results 181 to 190 of about 572,662 (310)

A metabolomic signature of maternal BMI is associated with pregnancy complications across two independent pregnancy cohorts. [PDF]

Commun Med (Lond)
Horner D, Vinding R, Wang T, Ali M, Lovric M, Prince N, Lasky-Su J, Bønnelykke K, Stokholm J, Chawes B, Rasmussen MA.   +10 more
europepmc   +1 more source

Descriptive Epidemiology From the Myhre Syndrome Foundation Registry: The Value of Self‐Reported Data

American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.
ABSTRACT Myhre syndrome is an ultrarare genetic disease characterized by short stature, distinct craniofacial features, cardiovascular and respiratory fibrosis and stenosis, neurodevelopmental delays, autism, intellectual disability, and hearing loss. The natural history of Myhre syndrome is still not fully understood due to a small patient population ...
Mary K. Young, Armelle Pindon, Maggie R. Brand, Kate Wears, Katherine H. Young, Alyssa Mendel, Michael J. Lyons   +6 more
wiley   +1 more source

Maternal knowledge about long-term consequences of pregnancy complications - a cross-sectional study. [PDF]

BMC Pregnancy Childbirth
Böhm M, von Kaisenberg C, Schippert C, von Versen-Höynck F.   +3 more
europepmc   +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

History of Pregnancy Complications and the Risk of Ischemic Stroke in Young Women. [PDF]

Neurology
Verburgt E, Hilkens NA, Verhoeven JI, Schellekens MMI, Ekker MS, Boot EM, van Alebeek ME, Brouwers PJAM, Arntz RM, Van Dijk G, Gons RAR, Van Uden IWM, Den Heijer T, van Tuijl J, de Laat KF, Van Norden AG, Vermeer SE, Van Zagten MS, Van Oostenbrugge RJ, Wermer MJH, Nederkoorn PJ, Kerkhoff H, Rooyer FA, Van Rooij FG, Van Den Wijngaard IR, Tuladhar AM, van Gelder MMHJ, Roeleveld N, Scholten RR, De Leeuw FE.   +29 more
europepmc   +1 more source

Co‐Occurring Non‐Cardiac Congenital Anomalies Among Cases With Congenital Heart Defects

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Cases with congenital heart defects (CHD) often have other associated anomalies. The aim of this investigation was to assess the prevalence and the types of co‐occurring anomalies in CHD in a well‐defined population. The anomalies co‐occurring with CHD were ascertained in all live births, stillbirths and terminations of pregnancy for fetal ...
Claude Stoll, Yves Alembik, Marie‐Paule Roth   +2 more
wiley   +1 more source

A Machine Learning Model Based on First-Trimester Lipidomic Signatures for Predicting Metabolic Pregnancy Complications. [PDF]

Int J Mol Sci
Tokareva A, Frankevich NA, Chagovets V, Derenko A, Lagutin V, Frankevich V, Sukhikh G.   +6 more
europepmc   +1 more source

Homozygous Achondroplasia With Long‐Term Survival: Growth Patterns, Medical Interventions, and Practice Implications

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Homozygous achondroplasia is widely considered perinatal lethal by the medical community. In this case series, we report two children from a single family with longer‐term survival. One child lived for 17 months and the other was 60 months at the time of publication.
Hannah Singerline, Jason Laufman, Kimberly Wallis, Michelle Merrill   +3 more
wiley   +1 more source

Cytosolic Phosphoenoylpyruvate Carboxykinase Deficiency: Clinical, Biochemical, and Genetic Features of Five Non‐Finnish Patients

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Cytosolic phosphoenoylpyruvate carboxykinase (PEPCK‐C) is an essential, rate‐limiting enzyme in the gluconeogenesis pathway. PEPCK‐C deficiency presents with hypoglycaemia, hyperlactataemia and hepatopathy, and was first reported in association with bi‐allelic PCK1 variants in 2014.
Isaac Bernhardt, Polona Le Quesne Stabej, Claire Hart, Mark De Hora, Sarah Hulley, Mark Anderson, Harry G. Leitch, Hugh Lemonde, Bryony Ryder, James Davison   +9 more
wiley   +1 more source

Insidious APOL1 Kidney Disease: A Manifestation of APOL1-Associated Pregnancy Complications on Nephron Endowment? [PDF]

Cells
Azhibekov T, Bruggeman LA.
europepmc   +1 more source