Results 61 to 70 of about 70,756 (309)

Non‐RASopathy Genetic Syndromes Identified as the Molecular Cause of Disease in Patients Previously Diagnosed With Noonan Syndrome

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Noonan Syndrome (NS) is a clinically and genetically heterogeneous condition characterized by typical facial dysmorphisms, short stature, congenital heart defects, and developmental delays. While variants in genes such as PTPN11, SOS1, and RAF1 account for most genetically confirmed cases, diagnosis is challenging due to phenotypic overlap ...
Gabriela Jeesoo Kim, Alexsandra Christianne Malaquias, Debora Romeo Bertola, Raissa Carneiro Rezende, Laurana De Polli Cellin, Lucas Vieira Lacerda Pires, Ana Maria Santillan‐Vasconez, Antônio Marcondes Lerario, Renata da Cunha Scalco, Alexander Augusto de Lima Jorge   +9 more
wiley   +1 more source

Noonan Syndrome Spectrum Disorders Predispose to Systemic Lupus Erythematosus: Case Report and Critical Review of the Literature

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT RASopathies are clinically overlapping neurodevelopmental syndromes resulting from germline mutations in genes involved in the rat sarcoma/mitogen‐activated protein kinases (RAS/MAPK) pathway. Historically, RASopathies have been described by clinical phenotypes, such as Noonan syndrome and Neurofibromatosis type I.
Anastasia‐Vasiliki Madenidou, Gillian I. Rice, James O'Sullivan, Ben Parker, Ian N. Bruce, Emma Burkitt‐Wright, Tracy A. Briggs   +6 more
wiley   +1 more source

Novel VPS13B Mutations in Three Large Pakistani Cohen Syndrome Families Suggests a Baloch Variant with Autistic-Like Features. [PDF]

, 2015
BackgroundCohen Syndrome (COH1) is a rare autosomal recessive disorder, principally identified by ocular, neural and muscular deficits. We identified three large consanguineous Pakistani families with intellectual disability and in some cases with ...
Ali, Ghazanfar, Ali, Nadir, Ambalavanan, Amirthagowri, Amin-ud-Din, Muhammad, Ansar, Muhammad, Ayaz, Muhammad, Ayub, Muhammad, Brohi, Muhammad Qasim, Caron, Chantal, Christian, Mehtab, Egger, Gerald, Fennell, Alanna, Forgeot d'Arc, Baudouin, Johnson, Amelie, Khan, Falak Sher, Laurent, Sandra, Leblond, Claire S, Mahmood, Huda, Mottron, Laurent, Nanjiani, Zohair, Rafiq, Muhammad Arshad, Rasheed, Saima, Saqib, Muhammad Arif Nadeem, Shaheen, Naseema, So, Joyce, Spiegelman, Dan, Vincent, Akshita K, Vincent, John B, Waqas, Ahmed, Xiong, Lan   +29 more
core   +2 more sources

Expanding the Genotype–Phenotype Correlation of Marden–Walker Syndrome due to PIEZO2 Gene Variants: A Case Report From Brazil

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Marden–Walker syndrome (MWS; OMIM 248700) is an extremely rare congenital disorder characterized by multiple joint contractures, craniofacial dysmorphism, neurological abnormalities, and multisystem involvement. Although historically diagnosed on clinical grounds, only a few cases have been molecularly confirmed.
Guilherme Sotto Battiston, Carolina de Souza Araujo, Fernanda Araujo Romera, André Luis Ferreira, Érica Trovisco Martins, Carolina Galhós de Aguiar, José Eduardo Mourão Santos, Rodrigo Ragazzini, Daniela Testoni Costa‐Nobre, Ana Claudia Yoshikumi Prestes, Allan Chiaratti de Oliveira, Eduardo Perrone, Débora Gusmão Melo, Anne Caroline Barbosa Teixeira, Antonio Victor Campos Coelho, Caio Robledo D’Angioli Costa Quaio, Carolina Araujo Moreno, Eduardo Perrone, Jose Bandeira do Nascimento Junior, Jessica Grasiela Araujo Espolaor, Joana Rosa Marques Prota, Joao Bosco de Oliveira Filho, Jose Ricardo Magliocco Ceroni, Kelin Chen, Letícia Torres Ferreira, Lucas Santos de Santana, Luciana Souto Mofatto, Luiza do Amaral Virmond, Marina de Franca Basto Silva, Michele Patricia Migliavacca, Renata Moldenhauer Minillo, Renata Yoshiko Yamada, Roberta Sitnik, Tatiana Ferreira de Almeida, Thiago Yoshinaga Tonholo Silva, Vivian Pedigone Cintra   +35 more
wiley   +1 more source

Comportamiento de las ptosis palpebral en el servicio de oculoplastia: Año 2001 Behavior of palpebral ptosis in the oculoplasty service: Year 2001

Revista Cubana de Oftalmología, 2002
Se estudiaron 93 pacientes que acudieron a consulta en el año 2001 y se les realizó examen oftalmológico completo y específico de la ptosis. El 40,86 % se encontraba entre los 15 años o menos.
Marta Herrera Soto, Carlos González Rodríguez, Nereyda Martínez Suárez, Carmen Padilla González   +3 more
doaj  

Surgical management of concomitant ptosis and cicatricial entropion in a patient with ocular cicatricial pemphigoid [PDF]

, 2015
Purpose: To report on the surgical management of concurrent ptosis and entropion in a patient with cicatricial pemphigoid. Case report: A 71 year-old patient presented with vision impairment and pain in the right eye due to entropion associated ...
Lambiase, Alessandro, Mutolo, MARIA GIULIA, Recupero, Santi Maria, Scuderi, Gianluca   +3 more
core   +1 more source

Ontogeny of RSPO1, FOXL2, and RUNX1 during ovarian differentiation in the marsupial tammar wallaby

Developmental Dynamics, EarlyView.
Abstract Background RSPO1 and FOXL2 are female sex‐determining genes involved in the differentiation and organization of the ovary in some eutherian mammals. Mutations or loss of function of these genes are associated with partial to full sex reversal in mice, humans, and goats.
Monika R. Paranjpe, Yu Chen, Geoff Shaw, Marilyn B. Renfree   +3 more
wiley   +1 more source

Progressively worsening ptosis in a woman: A case report

Clinical Case Reports
Key Clinical Message Filler injections into the upper eyelid may cause levator aponeurosis fibrosis and ptosis. This risk must be considered. When ptosis appears, treatment might be difficult.
Hongqing Zhao, Yuan Ren, Zhanhua Yang, Yuanyuan Wang, Junbo Zhang   +4 more
doaj   +1 more source

Loss of Twist1 leads to disruption of ciliary length, endocytic vesicle dynamics, and cell–cell junctions during neural tube formation

Developmental Dynamics, EarlyView.
Abstract Background Endocytosis constitutes a fundamental cellular process governing development through coordinated regulation of plasma membrane remodeling and ciliogenesis, processes essential for cell shape changes and tissue development. Although Twist1 null embryos display complete cranial neural tube (NT) closure defects and conditional knockout
Derrick Thomas, Brittany M. Hufft‐Martinez, Zarna Lalwani, Vi Pham, Mary Elmeniawi, An J. Tran, Jianming Xu, Irfan Saadi, Walid D. Fakhouri   +8 more
wiley   +1 more source

Tarsal switch using an anterior approach to correct severe ptosis

Archives of Plastic Surgery, 2018
Background To present the outcomes of the tarsal switch procedure using an anterior approach to correct severe ptosis with poor levator muscle function (
Roberta Lilian Fernandes de Sousa Meneghim, Lucieni Barbarini Ferraz, Alicia Galindo-Ferreiro, Rajiv Khandekar, Hortensia Sanchez-Tocino, Silvana Schellini   +5 more
doaj   +1 more source