Results 181 to 190 of about 377,719 (259)

G‐CSF for Mobilizing CD34+ Cells in Individuals With SCD: A Word of Caution

American Journal of Hematology, EarlyView.
Akshay Sharma, Allistair Abraham, Monica Bhatia, María Cancio, Sonali Chaudhury, Selim Corbacioglu, Gregory M. T. Guilcher, Ashish O. Gupta, Rabi Hanna, Matthew M. Heeney, Tami John, Lakshmanan Krishnamurti, James L. LaBelle, Hemalatha G. Rangarajan, Shalini Shenoy, Elizabeth Stenger, Crawford Strunk, Courtney D. Fitzhugh   +17 more
wiley   +1 more source

The Diagnosis That Arrived Decades Late: Living Without and Then With Myhre Syndrome

American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.
ABSTRACT Myhre syndrome (MIM #139210) is a rare multisystem disorder first described in 1981, characterized by short stature, neurodevelopmental delay, joint contractures, and cardiopulmonary complications. Its molecular basis, recurrent pathogenic variants in SMAD4, was not discovered until 2011. This narrative is based on a review of medical records,
Abdallah F. Elias
wiley   +1 more source

Phenotypic plasticity shapes carry-over effects in sea rock-pool mosquitoes. [PDF]

Biol Open
Cordeschi G, Bisconti R, Mastrantonio V, Canestrelli D, Porretta D.   +4 more
europepmc   +1 more source

High‐Altitude Hypoxemia in Adults With Sickle Cell Disease (SCD)

American Journal of Hematology, EarlyView.
Mofiyin A. Obadina, Sherri Morris, Tara Alin, Barbara LeVarge, Jane A. Little   +4 more
wiley   +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

A Case Series From a Multicentric Study: Can Artificial Intelligence (AI)-Enabled Chest X-Ray Assist in the Incidental Detection of Early-Stage Lung Cancers? [PDF]

Cureus
Koksal D, Govindarajan A, Baykan A, Durhan G, Sarinc S, Akpinar MG, Demirkazik F, Mathivanan KM, Vignesh P, Shivabasappa S.   +9 more
europepmc   +1 more source

Interindividual variation of eye optics and single object resolution in bumblebees [PDF]

, 2003
Chittka, L, Spaethe, J
core   +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

HISTAI: a valuable dataset with a valuable lesson. [PDF]

J Pathol Clin Res
Hewitt KJ, Reitsam NG, Foersch S, Erber R, Zeng Q, Kather JN.   +5 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