Results 261 to 270 of about 230,451 (347)

White–Sutton Syndrome: Insight of an Italian Cohort of 19 Subjects

Clinical Genetics, EarlyView.
New insights into White–Sutton syndrome with a collection of 19 Italian patients. Due to its complexity, we stress the importance of a systematic evaluation following the diagnosis and a thoughtful management of patients. Preliminary genotype–phenotype correlation analysis suggests the association between disruptive splicing variants and more severe ...
Anna Facchini, Maria Pina Concas, Stefania Zampieri, Iris Scala, Claudio Graziano, Anna Maria Innoceta, Marina Trivisano, Angela De Dominicis, Gabriele Trimarchi, Livia Garavelli, Margherita Baldassarri, Ilaria De Maggio, Francesca Mari, Donatella Greco, Paolo Gasparini   +14 more
wiley   +1 more source

A Case of a Short Stature Patient With Marfan Syndrome: A Tale of Wide Mediastinum. [PDF]

Cureus
Hegazy Y, Abdallah A, Salem A, Assaker A, Elmogy A.   +4 more
europepmc   +1 more source

1152. Kopsia singapurensis Ridl.

Curtis's Botanical Magazine, EarlyView.
Summary Kopsia singapurensis Ridl. forms large shrubs to small trees most commonly found in lowland swampy forests or riverbanks. In cultivation, the plants freely flower throughout the year but records indicate a twice annual flowering previously occurred in the wild.
Charles Cannon, Chong Kwek Yan, Kelly Bassett, Wee Foong Ang, Xin Yi Ng, Evonne Tay‐Koh   +5 more
wiley   +1 more source

Short Stature in Klinefelter Syndrome From Aggrecan Mutation. [PDF]

JCEM Case Rep
Farrell A, Sura SR.
europepmc   +1 more source

Brain lesion extent, growth, and body composition in children with cerebral palsy

Developmental Medicine &Child Neurology, EarlyView.
Abstract Aim To investigate the relationship between growth, body composition, and the extent of brain lesion measured using structural magnetic resonance imaging (MRI) in children with cerebral palsy (CP). Method This prospective population‐based cohort study recorded 359 assessments from 124 children with CP aged 18 months to 13 years (38% female ...
Stina Oftedal, Simona Fiori, Kristie L. Bell, Katherine A. Benfer, Leanne Sakzewski, Robert S. Ware, Peter S. W. Davies, Roslyn N. Boyd   +7 more
wiley   +1 more source

Comparison of the effectiveness of recombinant human growth hormone therapy in preterm and full-term children with short stature born small for gestational age. [PDF]

Ann Pediatr Endocrinol Metab
Kim D, Yoon JH, Hwang S, Kim JH, Yoo HW, Choi JH.   +5 more
europepmc   +1 more source

Scarring and Selection in the Great Irish Famine

The Economic History Review, EarlyView.
Abstract How do famines shape the health of survivors? We examine the long‐term impact of the Great Irish Famine (1845–52) on human stature, distinguishing between adverse scarring effects and the apparent resilience of survivors due to selection. Using anthropometric data from more than 14500 individuals born before, during, and after this famine, we ...
Matthias Blum, Christopher L. Colvin, Eoin McLaughlin   +2 more
wiley   +1 more source

A polygenic score for height identifies an unmeasured genetic predisposition among pediatric patients with idiopathic short stature. [PDF]

Genome Med
Shelley JP, Shi M, Peterson JF, Van Driest SL, Simmons JH, Mosley JD.   +5 more
europepmc   +1 more source

Segmentation and gender wage disparities in the early industrial workforce: Insights from Arkwright's Lumford Mill, 1786–1811

The Economic History Review, EarlyView.
Abstract This article examines the gender wage gap and wage setting in the early cotton spinning factories of the industrial revolution, with a specific focus on Richard Arkwright's Lumford Mill in Bakewell, Derbyshire. The research links workers from the mill's wage books with parish baptism records to estimate ages and construct age–wage profiles in ...
Alexander Tertzakian
wiley   +1 more source

Expanding the Clinical Phenotype Associated with the <i>NIN</i> Gene; Report of a Patient with Short Stature, Microcephaly and Hearing Loss. [PDF]

Arch Iran Med
Zamanian Najafabadi S, Ghorbanoghli Z, Ghaderi Z, Afroozan F, Talea A, Ahangari F, Makvand M, Najmabadi H, Kariminejad A.   +8 more
europepmc   +1 more source