Results 81 to 90 of about 3,300 (225)
Hereditary Colorectal Cancer and Polyposis Syndromes Caused by Variants in Uncommon Genes
Genes, Chromosomes and Cancer, Volume 63, Issue 8, August 2024.ABSTRACT A substantial number of hereditary colorectal cancer (CRC) and colonic polyposis cannot be explained by alteration in confirmed predisposition genes, such as mismatch repair (MMR) genes, APC and MUTYH. Recently, a certain number of potential predisposition genes have been suggested, involving each a small number of cases reported so far. Here,
Ahmed Bouras +11 more
wiley +1 more source
Kepadatan dan Pola Distribusi Kijing (Glauconome Virens, Linnaeus 1767) di Ekosistem Mangrove Belawan [PDF]
, 2014 The aims of this study were to determine density and distribution pattern of ki-jing (G. virens) in Belawan Mangrove Ecosystem. Sample were collected with a smallsquares 1x1 m 2 as much as 45 with interval 1 m. The results of this study showed thehighest
Jumilawaty, E. (Erni) +2 more
core
Ectrodactyly, Ectodermal Dysplasia, Cleft Lip, and Palate (EEC Syndrome) with Tetralogy of Fallot: A Very Rare Combination [PDF]
, 2015 Ectrodactyly, ectodermal dysplasia, and cleft lip/palate syndrome (EEC) syndrome is a rare genetic disorder with an incidence of around 1:90,000 live births.
Aakash Pandita +5 more
core +2 more sources
CATSHL syndrome, a new family and phenotypic expansion
Clinical Genetics, Volume 105, Issue 3, Page 313-316, March 2024.A novel heterozygous variant of FGFR3 was identified in 2 members of the same family affected by CAmptodactyly – Tall stature – Scoliosis – Hearing Loss (CATSHL) syndrome with some shared features with Lacrimo – Auricolo – Dento – Digital (LADD) syndrome. LADD and CATSHL syndromes could be further evidences of high pleiotropy of FGFR3.
Silvia Cannova +8 more
wiley +1 more source
Customized Prosthetic Oral Rehabilitation of a Child with Hypohidrotic Ectodermal Dysplasia: A Case Report [PDF]
Journal of South Asian Association of Pediatric DentistryThe present case report describes interdisciplinary prosthetic oral rehabilitation of a 7-year-old male child presenting classical features of hypohidrotic ectodermal dysplasia (HED) and subtotal anodontia. The treatment, in this case, was simplified and
Hitesh Chander Mittal +4 more
doaj +1 more source
Frequency and characteristics of tooth agenesis among an orthodontic patient population [PDF]
, 2010 Purpose: The objectives of this study were to investigate the prevalence and characteristics of tooth agenesis and the associated skeletal morphology and arch widths in a group of Turkish patients seeking orthodontic treatment. Material and Methods: We
Celikoglu, Mevlut +5 more
core +1 more source
Reproductive Performance Of Anodontia Philippiana
Jurnal Kelautan, 2009 Objective of this study was to determine reproductive performance of A. philippiana. Samples were collected from the oil affected mangrove mudflat in Pototan, Guimaras, Philippine on September 2007. A. philippiana were induced to spawn using the serotonin method. Only A.
openaire +2 more sources
Dental and craniofacial characteristics in a patient with Dubowitz syndrome: a case report [PDF]
, 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 ...
Andrea Ballini +3 more
core +2 more sources
Ectodermal dysplasia with true anodontia
Journal of Oral and Maxillofacial Pathology, 2011 The hereditary condition known as ectodermal dysplasia is characterized by the absence or defect of two or more ectodermally derived structures. The most commonly observed forms of ectodermal dysplasia are the hidrotic and hypohidrotic types; discrimination is based on the absence or presence of sweat glands.
Bala, Madhu, Pathak, Anuradha
openaire +3 more sources