Results 201 to 210 of about 1,223,979 (292)

Therapy for Myhre Syndrome: Goals, Misconceptions, and Current Agents

American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.
ABSTRACT Myhre Syndrome (MYHRS, MIM #139210) is a rare, multisystem connective tissue disorder caused by recurrent heterozygous gain‐of‐function pathogenic variants in the SMAD4 gene, a key player in TGF‐β signaling and a regulator of extracellular matrix homeostasis.
Alessandro De Falco, Alfonso Manuel D'Alessio, Nicola Brunetti‐Pierri   +2 more
wiley   +1 more source

Kenyan Neonatal Mortality Risk Predictor: Protocol for a User-Centered Design Evaluation.

JMIR Res Protoc
Nyatuka RD, Macharia P, Esther K, Siva F, Muriithi B, Rahman Jabin MS.   +5 more
europepmc   +1 more source

Placental gene signatures associated with high neonatal adiposity: role for immune cell activation. [PDF]

J Endocr Soc
Laird J, Venkataraman D, Yen H, Liu C, Catalano P, Spadafora R, Nirmala N, O'Tierney-Ginn P.   +7 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

Placental Vascular Malperfusion, Perinatal Death and Neonatal Brain Injury: A Mechanism-Based Narrative Review with Medico-Legal Implications. [PDF]

J Clin Med
Mastrangelo H, Sacco MA, Gualtieri S, Grimaldi G, Monterossi MD, Neri G, Aquila I.   +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

The Experiences of Families in Family-Integrated Approaches to Neonatal and Infant Pain Management in the Neonatal Intensive Care Unit: A Systematic Review. [PDF]

Paediatr Neonatal Pain
Goddard J, Homfray J, Govindaswamy P, Ilhan E.   +3 more
europepmc   +1 more source

Novel MYL1 Intron Variant With Expanded Phenotype

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Congenital myopathy‐14 (CMYO14) is an ultrarare autosomal recessive disorder caused by biallelic variants in MYL1, with only four patients reported to date. We describe what is likely the fifth reported patient, a neonate with severe hypotonia, respiratory insufficiency, and skeletal anomalies showing distinct histological changes of skeletal ...
Maria Barington, Marie Balslev‐Harder, Thomas Krag, Thomas van Overeem Hansen, Camilla Bernt Wulff, Ulrik Lausten‐Thomsen, Tina Duelund Hjortshøj, Elsebet Østergaard   +7 more
wiley   +1 more source

Quality appraisal of clinical guidelines for newborns in China: a systematic review protocol. [PDF]

BMJ Open
Jing L, Liao Z, Liao L, Zhai X, Tang M, Bin Q.   +5 more
europepmc   +1 more source