Results 61 to 70 of about 3,111 (197)

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

BRPF1‐associated intellectual disability, ptosis, and facial dysmorphism in a multiplex family

Molecular Genetics & Genomic Medicine, 2019
Background Over 500 epigenetic regulators have been identified throughout the human genome. Of these, approximately 30 chromatin modifiers have been implicated thus far in human disease. Recently, variants in BRPF1, encoding a chromatin reader, have been
Naomi Pode‐Shakked, Ortal Barel, Ben Pode‐Shakked, Aviva Eliyahu, Amihood Singer, Omri Nayshool, Nitzan Kol, Annick Raas‐Rothschild, Elon Pras, Mordechai Shohat   +9 more
doaj   +1 more source

Genome-Wide Association with Diabetes-Related Traits in the Framingham Heart Study [PDF]

, 2007
BACKGROUND: Susceptibility to type 2 diabetes may be conferred by genetic variants having modest effects on risk. Genome-wide fixed marker arrays offer a novel approach to detect these variants.
Cupples, L. Adrienne, Dupuis, Josée, Florez, Jose C., Fox, Caroline S., Liu, Chunyu, Manning, Alisa K., Meigs, James B.   +6 more
core   +4 more sources

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

Dental and craniofacial characteristics in a patient with Dubowitz syndrome: a case report

Journal of Medical Case Reports, 2011
Introduction Dubowitz syndrome is a very rare, autosomal recessive disease characterized by microcephaly, growth retardation, a high sloping forehead, facial asymmetry, blepharophimosis, sparse hair and eyebrows, low-set ears and mental retardation ...
Tullo Domenica, Cantore Stefania, Ballini Andrea, Desiate Apollonia   +3 more
doaj   +1 more source

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

ITGB5 mutation discovered in a Chinese family with blepharophimosis-ptosis-epicanthus inversus syndrome

Open Life Sciences, 2021
Blepharophimosis-ptosis-epicanthus inversus syndrome (BPES) is a rare autosomal-dominant genetic disorder, and mutations in the forkhead box L2 (FOXL2) gene are one of the major genetic causes.
Cheng Tianling, Yuan Xiaobin, Yuan Shaopeng, Zhu Jianying, Tang Shengjian, Zhang Yujie   +5 more
doaj   +1 more source

Foxl2 gene and the development of the ovary : a story about goat, mouse, fish and woman [PDF]

, 2005
In this review, we describe recent results concerning the genetics of sex determination in mammals. Particularly, we developed the study of the FOXL2 gene and its implication in genetic anomalies in goats (PIS mutation) and humans (BPES).
Baron, Daniel, Batista, Frank, Chaffaux, Stéphane, Cocquet, Julie, Cotinot, Corinne, Cribiu, Edmond, De Baere, Elfride, Fellous, Marc, Guiguen, Yann, Jaubert, Francis, Pailhoux, Eric, Pannetier, Maëlle, Vaiman, Daniel, Veitia, Reiner, Vigier, Bernard   +14 more
core   +4 more sources

Epidermal Nevi and Epidermal Naevus Syndromes

JEADV Clinical Practice, Volume 4, Issue 3, Page 669-680, August 2025.
ABSTRACT Epidermal nevi (EN) arise from postzygotic variants in ectoderm‐derived cell lines, such as keratinocytes and cells forming adnexa. EN may be present alone without any associated abnormality or be part of a syndrome. In this review, we will discuss about the clinical and genetics of the main types of EN and related syndromes.
Gianluca Tadini, Beatrice Carcano, Michela Brena   +2 more
wiley   +1 more source

Genetic analysis of BRPF1 exon deletion variant causing intellectual developmental disorder with dysmorphic facies and ptosis in a Chinese family

Egyptian Journal of Medical Human Genetics
Background Intellectual developmental disorders with dysmorphic facies and ptosis (IDDDFP) are rare neurological conditions caused by variants in the BRPF1 gene.
Qian Liu, Feifei Li, Nana Wang, Zhengjun Fan   +3 more
doaj   +1 more source