Results 101 to 110 of about 43,285 (257)

Clinical and Molecular Characterization of Xia–Gibbs Syndrome: Expanding the Phenotypic Spectrum in a Brazilian Cohort

Clinical Genetics, EarlyView.
We present a clinical and molecular characterization of 16 Brazilian individuals with Xia–Gibbs syndrome, identifying 12 novel AHDC1 variants and four phenotypes not previously associated. Our findings support existing genotype–phenotype associations and suggest a new relation, expanding the known phenotypic and genetic spectrum of the syndrome ...
Maísa Ganz Sanchez Sennes, Laura Machado Lara Carvalho, Matheus Augusto Araújo Castro, Giovana Manilli Toccoli, Sofia de Oliveira Farias, Davi Mendes Campo Fialho, Eny Maria Goloni Bertollo, Erika Cristina Pavarino, Larissa Sampaio de Athayde, Cecilia Barbosa Buck, Maria Betânia Pereira Toralles, Maria Isabel Melaragno, Mariluce Riegel‐Giugliani, Gustavo Marquezani Spolador, Paulo Alberto Otto, Caroline Brandão Piai, Fernando Kok, Ceres Schmitz Cechella, Carla Rosenberg, Juan Clinton Llerena, Débora Romeo Bertola, Salmo Raskin, Chong Ae Kim, Ana Cristina Victorino Krepischi   +23 more
wiley   +1 more source

Remarks on Strabismus [PDF]

The Boston Medical and Surgical Journal
n ...
openaire   +3 more sources

Six New Cases of 22q13.2 Gain Including TFC20: First Report of Triplication and Smallest Duplication Associated With Neurodevelopmental Delays

Clinical Genetics, EarlyView.
This study reports six new cases of 22q13.2 duplication and triplication, including the TCF20 gene, associated with neurodevelopmental disorders and various morphological and systemic abnormalities. The findings suggest a variable expressivity, but their complete penetrance remains uncertain compared to well‐established loss‐of‐function variants ...
Etienne Bizot, Dima Jouni, Caroline Rooryck, Juliet Taylor, Marine Legendre, Lorelei Charbonnier, Julia Metreau, Emmanuelle Benaloun, Audrey Pinson, Geneviève Quenum, Jérôme Bouligand, Gérard Tachdjian, Philippe Labrune, Lucie Tosca   +13 more
wiley   +1 more source

The Operative Treatment of Strabismus. [PDF]

, 1902
George M. Gould
openalex   +1 more source

Genetic and Structural Variations in Czech Patients With Congenital Myopathies

Clinical Genetics, EarlyView.
We present 79 unrelated patients with genetically confirmed congenital myopathy (CM). A total of 113 mutant alleles carrying 97 different variants with a presumed pathogenic effect were identified. All but five variants were small scale. The mode of inheritance was autosomal dominant (AD) (44.3%), autosomal recessive (AR) (43.0%), and X‐linked (XL) (12.
Jana Zídková, Barbora Lauerová, Lívie Mensová, Tereza Kramářová, Johana Kopčilová, Kamila Réblová, Magdaléna Soukup Vodičková, Martina Hujňáková, Jana Haberlová, Marie Rohlenová, Radim Mazanec, Jana Šoukalová, Renata Gaillyová, Emílie Vyhnálková, Miroslava Balaščaková, Pavlína Danhofer, Lenka Juříková, Dagmar Grečmalová, Andrea Gřegořová, Pavlína Plevová, Martina Langová, Tomáš Honzík, Martin Magner, Martina Klincová, Pavla Solařová, Mária Šenkeříková, Lenka Fajkusová   +26 more
wiley   +1 more source

BURIED SILK, CATGUT AND STRABISMUS SUTURES [PDF]

, 1944
John R. Foster
openalex   +1 more source

Expanding the Genetic and Phenotypic Spectrum of POLRMT‐Related Mitochondrial Disease

Clinical Genetics, EarlyView.
We identified potentially damaging monoallelic and biallelic POLRMT variants in affected individuals from six unrelated families, thus extending both the clinical and genetic phenotypes of POLRMT‐related mitochondrial disease. ABSTRACT Mitochondrial diseases are a complex group of conditions exhibiting significant phenotypic and genetic heterogeneity ...
Mahmoud R. Fassad, Sebastian Valenzuela, Monika Oláhová, Jack J. Collier, Charlotte V. Y. Knowles, Eleni Mavraki, Miriam Elbracht, Nergis Güzel, Thomas Herberhold, Ingo Kurth, Andrea Maier, Larissa Mattern, Carol Saunders, Helen McCullagh, Katrin Õunap, Saskia B. Wortmann, Andre Reis, Lei Zhang, Claes M. Gustafsson, Robert McFarland, Robert W. Taylor   +20 more
wiley   +1 more source

Dr. Davenport's Cases of Strabismus Divergens [PDF]

EDWARD J. DAVENPORT
openalex   +1 more source

A Further Case Supporting PDCD6IP as the Gene Responsible for a Neurodevelopmental Disorder With Microcephaly

Clinical Genetics, EarlyView.
Summary of clinical and molecular findings in patients with biallelic variants in PDCD6IP.
Alfonso Manuel D'Alessio, Annalaura Torella, Manuela Morleo, Vincenzo Nigro, TUDP Study Group, Nicola Brunetti‐Pierri   +5 more
wiley   +1 more source

SURGERY OF STRABISMUS IN THE ORTHOPTIC PLEOPTIC SECTION OF THE DEPARTMENT OF OPHTALMOLOGY

Zdravniški Vestnik, 2003
Background. Since 1996 there have been 446 patients (107 adults) operated for strabismus. This retrospective study (retrospection) indicated that out of those 107 adults 22 of them suffer from convergent concomitant strabismus, 29 from convergent ...
Marija Vukan-Rudolf
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