Search
Now showing items 71-80 of 94
Hematopoietic stem cell transplantation in 29 patients hemizygous for hypomorphic IKBKG/NEMO mutations
(Amer Soc Hematology, 2017)
X-linked recessive ectodermal dysplasia with immunodeficiency is a rare primary immunodeficiency caused by hypomorphic mutations of the IKBKG gene encoding the nuclear factor kappa B essential modulator (NEMO) protein. ...
Novel Heterozygous Mutation in NFKB2 Is Associated With Early Onset CVID and a Functional Defect in NK Cells Complicated by Disseminated CMV Infection and Severe Nephrotic Syndrome
(2019)
Nuclear factor kappa-B subunit 2 (NF-κB2/p100/p52), encoded by NFKB2 (MIM: 164012) belongs to the NF-κB family of transcription factors that play a critical role in inflammation, immunity, cell proliferation, differentiation ...
New ocular findings in two sisters with Yunis-Varón syndrome and literature review
(2011)
The Yunis-Varón syndrome (YVS) represents a rare autosomal recessive syndrome of easy recognition characterized by cleidocraneal dysplasia, absence of thumbs and halluces, distal aphalangia, ectodermal anomalies, and poor ...
Etiología de la microdoncia de terceros molares y su relación o no con la oclusión
(Universidad de Guayaquil. Facultad Piloto de Odontología, 2014-07)
Los dientes son estructuras anatómicas que se desarrollan entre la sexta y octava semana de vida intrauterina y comienzan su erupción a partir de los seis primeros meses de vida aproximadamente. El desarrollo dentario u ...
Incidencia de la anodoncia de los terceros molares superiores en pacientes atendidos en la Clínica de Cirugía Dentomaxilar. Facultad Piloto de Odontología. Universidad de Guayaquil. Año 2014-2015.
(Universidad de Guayaquil. Facultad Piloto de Odontología, 2015-06)
En este trabajo de investigación se dará a conocer cómo incide en los maxilares la falta de desarrollo de los terceros molares superiores. La anodoncia es la ausencia parcial o total de las piezas dentarias, la ausencia ...
New ocular findings in two sisters with Yunis-Var�n syndrome and literature review
(2011)
The Yunis-Var�n syndrome (YVS) represents a rare autosomal recessive syndrome of easy recognition characterized by cleidocraneal dysplasia, absence of thumbs and halluces, distal aphalangia, ectodermal anomalies, and poor ...
Long-term follow-up of four patients with langer–giedion syndrome: clinical course and complications
(2013)
Long-term observations of individuals with the so-called Langer–Giedion (LGS) or tricho–rhino-phalangeal type II (TRPS2) are scarce. We report here a on follow-up of four LGS individuals, including one first described by ...