Results 91 to 100 of about 78,624 (321)
PLoS ONE, 2013 Although many adults with B cell acute lymphoblastic leukemia (B-ALL) are induced into remission, most will relapse, underscoring the dire need for novel therapies for this disease.
M. Davila +3 more
semanticscholar +1 more source
Molecular Landscape in Limb Anomalies: Diagnostic Yield and New Candidate Genes
Clinical Genetics, EarlyView.In 132 individuals with limb anomalies, diagnostic yield was 36% (47/132), including 25 novel variants, three cases with new phenotypes, and two candidate loci, HOXA11 and a small 2q31.1 deletion. Mouse data and exome‐wide analysis, key in identifying the candidate loci, represent an important opportunity for gene discovery.
Akram Mokhtari +7 more
wiley +1 more source
Bilateral olfactory aplasia: Uncommon cause of congenital anosmia
Clinical Case Reports, 2019 Olfactory aplasia is an uncommon cause of anosmia, and it should be suspected in young patients with lifelong decreased sense of smell. The aim of this article was to remind readers about this condition that need to be part of the differential diagnosis ...
Ashraf Nabeel Mahmood +2 more
doaj +1 more source
Intravascular tissue factor initiates coagulation via circulating microvesicles and platelets [PDF]
, 2003 Although tissue factor (TF), the principial initiator of physiological coagulation and pathological thrombosis, has recently been proposed to be present in human blood, the functional significance and location of the intravascular TF is unknown.
Alex, Meike +9 more
core +1 more source
Clinical Genetics, EarlyView.We identified a recurrent heterozygous MAX c.179G>A:p.Arg60Gln variant in two unrelated females affected with the emerging phenotypes of MAX‐associated polydactyly‐macrocephaly syndrome. We propose that genitourinary abnormalities, including Mayer–Rokitanski–Kuster–Hauser syndrome in one individual, are an expansion of the known phenotypes associated ...
Iftekhar A. Showpnil +9 more
wiley +1 more source
Clinical Genetics, EarlyView.This review primarily summarizes the genetic defects in Müllerian anomalies, the tools used to validate these genetic defects, and the future clinical significance of identifying the precise genetic etiology of Müllerian anomalies. ABSTRACT Müllerian anomalies are a collection of heterogeneous anatomical disorders of the female genital tract that ...
Jingfang Li +5 more
wiley +1 more source
Total segmental aplasia of uterus body in bitch
Asian Pacific Journal of Reproduction, 2019 Congenital anomalies of the female tubular genital tract are rare and known as segmental aplasia, resulting from incomplete development of paramesonephric ducts during embryonic stage, which originate from the cranial portion of vagina, cervix, uterus ...
Leonardo Martins Leal +4 more
doaj +1 more source
TBX6, LHX1 and copy number variations in the complex genetics of Müllerian aplasia
Orphanet Journal of Rare Diseases, 2013 BackgroundMüllerian aplasia (MA) is a congenital disorder of the female reproductive tract with absence of uterus and vagina with paramount impact on a woman’s life.
M. Sandbacka +7 more
semanticscholar +1 more source
Clinical Genetics, EarlyView.This study expands the clinical spectrum of SMARCA4 by describing a novel phenotype in three unrelated individuals with truncating variants. Distinct from Coffin–Siris syndrome and rhabdoid tumor predisposition, this new association is characterized by ocular malformations, specifically microphthalmia and coloboma.
Bertrand Chesneau +7 more
wiley +1 more source
Jornal Vascular Brasileiro, 2015 ResumoContextoHá diferenças individuais no diâmetro da veia safena magna (VSM) em membros normais e doentes; sendo possível a identificação dessas alterações pelo ecocolor Doppler.ObjetivoAvaliar a associação da aplasia segmentar da VSM com a presença de
Amélia Cristina Seidel +3 more
doaj +1 more source