Results 91 to 100 of about 66,087 (258)

Whole Genome Sequencing in Prenatal Diagnostics: The Danish Approach to Guideline Formation and Implementation Within Public Healthcare

Prenatal Diagnosis, EarlyView.
ABSTRACT Objective To describe the implementation of whole genome sequencing (WGS) in prenatal diagnostics and outline the national guideline system facilitating this. Methods Clinical guidelines for WGS in prenatal diagnostics were developed and implemented by the Danish Fetal Medicine Society.
Ida Vogel, Lotte Andreasen, Marie Balslev‐Harder, Naja Becher, Anja Ernst, Kasper Gadsbøll, Tina Duelund Hjortshøj, Marie Skov Hvidbjerg, Martin Larsen, Stina Lou, Ida Charlotte Bay Lund, Lars Henning Pedersen, Laura Kirstine Sønderberg Roos, Lene Sperling, Lone Sunde, Pernille Mathiesen Tørring, Cathrine Vedel, Olav Bjørn Petersen   +17 more
wiley   +1 more source

Immunodeficiency in DiGeorge Syndrome and Options for Treating Cases with Complete Athymia. [PDF]

, 2013
The commonest association of thymic stromal deficiency resulting in T-cell immunodeficiency is the DiGeorge syndrome (DGS). This results from abnormal development of the third and fourth pharyngeal arches and is most commonly associated with a ...
Davies, EG
core   +2 more sources

The Expanding Role of Gene Sequencing in Shaping Fetal Therapies: Clinical and Ethical Considerations

Prenatal Diagnosis, EarlyView.
ABSTRACT In utero interventions are transformative in addressing genetic and anatomic conditions during fetal development. Next generation sequencing enables early genetic testing, playing a pivotal role in prenatal decision‐making by supporting risk stratification, precise and timely diagnosis, which directly informs eligibility for fetal surgical and
Matthew A. Shear, Beltran Borges, Billie R. Lianoglou, Tony Lum, Emma Canepa, Jennifer L. Cohen, Julia E. H. Brown, Akos Herzeg   +7 more
wiley   +1 more source

Familial cases of missing mandibular incisor: three case presentations [PDF]

, 1999
Hypodontia is the congenital absence of one or more teeth because of agenesis. The most commonly missing teeth are the third molars, the maxillary lateral incisors and the second premolars.
Ngeow, Dr. W.C.
core  

Uncovering the Genetic Landscape of Spinal Dysraphism: A Retrospective Analysis of 150 Fetal Cases

Prenatal Diagnosis, EarlyView.
ABSTRACT Objective Spinal dysraphism (SD) results from incomplete neural tube closure and encompasses a heterogeneous group of congenital anomalies with genetic and environmental etiologies. Although genetic contributions are recognized, causative variants remain insufficiently defined, and the clinical implications of extended genetic testing on ...
I. Bedei, A. Feresin, R. Zemet, D. Berner, D. Polidori, K. Fröbius, A. Skakkebæk, R. Axt‐Fliedner, M. Shoukier, C. Keil   +9 more
wiley   +1 more source

Diagnostic Yield of Post‐Mortem Fetal Micro‐CT for Abdominal and Pelvic Anomalies

Prenatal Diagnosis, EarlyView.
ABSTRACT Objective(s) This study aims to document the abdominal and pelvic anomalies that can be demonstrated using post mortem Micro‐CT, independent of whether the anomaly contributed to the main diagnosis or cause of death. Methods We retrospectively analyzed 1200 whole body post‐mortem fetal Micro‐CT scans in an unselected, consecutive cohort ...
Ian C. Simcock, Audrey Lamouroux, Susan C. Shelmerdine, J. Ciaran Hutchinson, Neil J. Sebire, Owen J. Arthurs   +5 more
wiley   +1 more source

Ultrasonographic study of the incidence of pyramidal lobe and agenesis of the thyroid isthmus in Nnewi population

Journal of Ultrasonography, 2018
Introduction: Ultrasound is the most reliable imaging modality for thyroid evaluation due to the limitations in the clinical examination of this gland. Thyroid gland developmental anomalies are rare.
Lotanna Somtoo Akudu, Ukoha Ukoha Ukoha, Jervas Ekezie, Chinwe Clarice Ukoha   +3 more
doaj   +1 more source

Condotte compulsive in paziente con sindrome di Aicardi. agenesia del corpo calloso [PDF]

, 2013
The corpus callosum, which is the largest white matter structure in the brain of all placental mammals, connects the left and right cerebral hemispheres.
A. Anastasia, A. Quartini, BERSANI, Giuseppe, C. Colletti, E. Prinzivalli, F. S. Bersani, G. Valeriani   +6 more
core  

Cortically evoked motor responses in patients with Xp22.3-linked Kallmann's syndrome and in female gene carriers [PDF]

, 1992
Patients with Kallmann's syndrome show hypothalamic hypogonadism, hyposmia, and congenital mirror movements. As a correlate, a defect of gonadotropic neuron migration into the brain was recently detected. Considering abnormal outgrowth of neurons also as
Aizawa, Baird, Benecke, Britton, Capaday, Claus, Cohen, Conrad, Danek, Farmer, Forget, Freiman, Fries, Galaburda, Kallmann, Klingm�ller, Konagaya, Lander, Lieblich, Matthews, Meitinger, Nass, Nathan, Regli, Salmaso, Schott, Schwankhaus, Schwanzel-Fukuda, Schwanzel-Fukuda, Shibasaki, Skene, Weidenreich, White, Witt   +33 more
core   +1 more source

Fibroids in obstructed hemivagina and ipsilateral renal anomaly‐like syndrome: Successful hysterectomy and vaginal septoplasty in a kidney transplant recipient with uterus didelphys, vaginal septum and renal agenesis

International Journal of Gynecology &Obstetrics, EarlyView.
Mariana Correia Moreira Cruz, Sophia Helena Batalha, Vitor Matheus Silva, Marcos de Lorenzo Messina, José Maria Soares Junior, Edmund Chada Baracat   +5 more
wiley   +1 more source