Results 51 to 60 of about 3,419 (204)

Mutations in the facilitative glucose transporter GLUT10 alter angiogenesis and cause arterial tortuosity syndrome [PDF]

, 2006
Arterial tortuosity syndrome (ATS) is an autosomal recessive disorder characterized by tortuosity, elongation, stenosis and aneurysm formation in the major arteries owing to disruption of elastic fibers in the medial layer of the arterial wall1 ...
Barlati S, Callewaert B, Colombi M, Coucke PJ, De Backer J, De Paepe A, Dietz HC, Facchetti F, Forsyth R, Fox JE, Gardella R, Kambouris M, Loeys B, Mancini GM, Wessels MW, Willaert A, Willems PJ, Zoppi N   +17 more
core   +1 more source

Patient With Prolidase Deficiency due to an Homozygous PEPD Variant, Induced by Paternal Uniparental Isodisomy of Chromosome 19

American Journal of Medical Genetics Part A, Volume 197, Issue 10, October 2025.
ABSTRACT Uniparental disomy (UPD) is a rare phenomenon in which both copies of a chromosome are inherited from a single parent. This can lead to genomic imprinting disorders and recessive disorders due to the presence of recessive pathogenic variants in both alleles. Additionally, depending on the mechanisms by which UPD occurs, mosaic aneuploidies may
Marta Carreño‐Hidalgo, Raquel Muñoz‐Siles, Vanesa López‐González, Lidia Carreño‐Gago, Lluís Armengol Dulcet   +4 more
wiley   +1 more source

Blepharophimosis syndrome: association with colobomatous microphthalmos [PDF]

Australian and New Zealand Journal of Ophthalmology, 1995
Abstract Objective: To highlight the association of colobomatous microphthalmos with blepharophimosis syndrome. Result: We present a case of blepharophimosis syndrome associated with bilateral optic disc, retinochoroidal and iris colobomas, and microphthalmos, in a Caucasian boy.
Lee, LR, Sullivan, TJ
openaire   +3 more sources

Surgical approach to limiting skin contracture following protractor myectomy for essential blepharospasm [PDF]

, 2017
Purpose: To report our experience with protractor myectomy in patients with benign essential blepharospasm who did not respond to serial botulinum toxin injection, and to describe intra- and postoperative techniques that limited skin contracture while
Clark, Jeremy, Lee, Hui Bae H., Moore, Nicholas A., Nunery, William R., Randolph, John, Sokol, Jason A.   +5 more
core   +1 more source

Chromosome 3q22.2‐q26.2 Interstitial Deletion in a Patient With Wisconsin Syndrome, Blepharophimosis‐Ptosis‐Epicanthus Inversus Syndrome, Dandy‐Walker Malformation, Pierre Robin Sequence, and Recurrent Infections

American Journal of Medical Genetics Part A, Volume 197, Issue 10, October 2025.
ABSTRACT Wisconsin syndrome is a very rare genetic condition characterized by coarse facies, prominent nasal tip, bushy high arched/upsweeping eyebrows, and a full/everted lower lip. Deletion of chromosome 3q24q25 region is considered critical for its manifestation.
Pankaj Prasun, Sonja Henry, Vivek Balasubramaniam   +2 more
wiley   +1 more source

KAT6B Genetic Variant Identified in a Short Stature Chinese Infant: A Report of Physical Growth in Clinical Spectrum of KAT6B-Related Disorders

Frontiers in Pediatrics, 2020
Say-Barber-Biesecker-Young-Simpson syndrome (SBBYSS, OMIM#603736) and genitopatellar syndrome (GTPTS, OMIM#606170), characterized by global developmental delay/intellectual disability and special clinical manifestations, are two distinct clinically ...
Liuyan Zhu, Liuyan Zhu, Lina Lv, Lina Lv, Dingwen Wu, Dingwen Wu, Jie Shao, Jie Shao   +7 more
doaj   +1 more source

Cancer in pregnancy: FIGO Best practice advice and narrative review

International Journal of Gynecology &Obstetrics, Volume 171, Issue 1, Page 131-151, October 2025.
Abstract Cancer during pregnancy is relatively rare. The incidence is underestimated due to the lack of international registries covering both high‐income and low‐ and middle‐income countries, and is expected to rise with increasing maternal age and increasing global adoption of cell‐free DNA testing for aneuploidy.
Surabhi Nanda, Melanie Nana, Long Nguyen‐Hoang, Sumaiya Adam, Fionnuala McAuliffe, Lina Bergman, Sarikapan Wilailak, Orla McNally, Cynthia V. Maxwell, Nikhil Purandare, Bo Jacobsson, Virna P. Medina, Anil Kapur, Titus Beyuo, Francisco Ruiloba, Ernesto Castelazo, Graeme N. Smith, Sharleen L. O'Reilly, Patrick O'Brien, Mark Hanson, Mary L. Rosser, Claudio Sosa, Valerie Guinto, Jonathan Berek, Catherine Nelson‐Piercy, Frédéric Amant, Liona Poon, on behalf of the FIGO Committee on the Impact of Pregnancy on Long‐term Health, FIGO Committee on Women's Cancer, and the FIGO Division of Maternal and Newborn Health   +29 more
wiley   +1 more source

Anesthesia of a patient with Dubowitz syndrome -A case report- [PDF]

Korean Journal of Anesthesiology, 2010
Dubowitz syndrome is a rare autosomal recessive disorder that leads to growth retardation (intrauterine, postnatal), mental retardation, a peculiar face, microcephaly, behavioral problems and eczema.
Min Kee Lee, Yong Seock Lee
doaj   +1 more source

Premature ovarian failure and ovarian autoimmunity [PDF]

, 1997
Premature ovarian failure (POF) is defined as a syndrome characterized by menopause before the age of 40 yr. The patients suffer from anovulation and hypoestrogenism.
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core   +3 more sources

Phenotypic Characterization of Seven Pediatric Patients Diagnosed With KAT6B ‐Related Disorders: Case Series and Review of the Literature

American Journal of Medical Genetics Part A, Volume 197, Issue 9, September 2025.
ABSTRACT Genitopatellar syndrome (GPS) and Say‐Barber‐Biesecker‐Young‐Simpson Syndrome (SBBYSS) are clinically distinct neurodevelopmental disorders caused by monoallelic pathogenic variants in KAT6B. In some cases, GPS and SBBYSS features can overlap, determining an intermediate phenotype.
Vittorio Maglione, Antonio Pizzuti, Gioia Mastromoro, Eleonora Cresta, Paola Favata, Maria Cristina Digilio, Rossella Capolino, Maria Lisa Dentici, Lorenzo Sinibaldi, Antonio Novelli, Marco Tartaglia, Gianluca Terrin, Viviana Cardilli   +12 more
wiley   +1 more source