Results 131 to 140 of about 233,721 (401)

Measured parental height in Turner syndrome—a valuable but underused diagnostic tool [PDF]

, 2017
Early diagnosis of Turner syndrome (TS) is necessary to facilitate appropriate management, including growth promotion. Not all girls with TS have overt short stature, and comparison with parental height (Ht) is needed for appropriate evaluation.
Cizmecioglu, Filiz Mine, Donaldson, Malcolm, Gault, Emma Jane, Jones, Jeremy Huw, Mansour, Chourouk, Mason, Avril, Ouarezki, Yasmine   +6 more
core   +1 more source

Parental Decision‐Making Following a Prenatal Diagnosis of Turner Syndrome: A Systematic Review

American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.
ABSTRACT This systematic review investigates factors influencing parental decision‐making following a prenatal diagnosis (PND) of Turner syndrome (TS), aiming to enhance the foundation for tailored and supportive genetic counseling. A comprehensive literature search was conducted in the medical databases PubMed, Embase, and CINAHL.
Inger Lily Hjuler Dorf, Stina Lou, Anne Skakkebæk   +2 more
wiley   +1 more source

Investigation of marmoset hybrids (Cebuella pygmaea x Callithrix jacchus) and related Callitrichinae (Platyrrhini) by cross-species chromosome painting and comparative genomic hybridization [PDF]

, 2005
We report on the cytogenetics of twin offspring from an interspecies cross in marmosets (Callitrichinae, Platyrrhini), resulting from a pairing between a female Common marmoset (Callithrix jacchus, 2n = 46) and a male Pygmy marmoset (Cebuella pygmaea, 2n
Canavez FC, Dugoujon JM, G. Anzenberger, M. Münch, M. Neusser, Moore CM, Muller S, Muller S, Natori M, Pellicciari C, Ratomponirina C, Rosenberger AL, Rumpler Y, Rylands AB, S. Müller, Yunis E   +15 more
core   +1 more source

Visualizing Turner Syndrome

American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.
ABSTRACT Turner syndrome (TS) continues to present a diagnostic challenge to healthcare professionals. The diagnostic challenges associated with TS result in delayed treatment and clinical care. Here we provide an update of the physical appearance of girls and women with TS by presenting clinical photographs and detailed clinical descriptions of 25 ...
Kirstine Stochholm, Astrid Bruun Rasmussen, Anne Skakkebæk   +2 more
wiley   +1 more source

New insights into the prognostic impact of the karyotype in MDS and correlation with subtypes: evidence from a core dataset of 2124 patients.

Blood, 2007
We have generated a large, unique database that includes morphologic, clinical, cytogenetic, and follow-up data from 2124 patients with myelodysplastic syndromes (MDSs) at 4 institutions in Austria and 4 in Germany. Cytogenetic analyses were successfully
D. Haase, U. Germing, J. Schanz, M. Pfeilstöcker, T. Nösslinger, B. Hildebrandt, Andrea Kundgen, M. Lübbert, R. Kunzmann, A. Giagounidis, C. Aul, L. Trümper, O. Krieger, R. Stauder, T. Müller, F. Wimazal, P. Valent, C. Fonatsch, C. Steidl   +18 more
semanticscholar   +1 more source

Expert Perspectives on a Clinical Challenge: Hematologic Malignancies and Vasculitis

Arthritis &Rheumatology, Accepted Article.
Systemic vasculitis describes a collection of rare diseases each caused by inflammation of blood vessel walls that can cause severe systemic complications [[3, 4]](#ref‐0003). The pattern of vascular inflammation and resultant damage is frequently variable and may be mimicked, or directly triggered, by infection or malignancy.
Michelle L. Robinette, Hetty E. Carraway
wiley   +1 more source

Monosomal karyotype in acute myeloid leukemia: a better indicator of poor prognosis than a complex karyotype.

Journal of Clinical Oncology, 2008
PURPOSE To investigate the prognostic value of various cytogenetic components of a complex karyotype in acute myeloid leukemia (AML). PATIENTS AND METHODS Cytogenetics and overall survival (OS) were analyzed in 1,975 AML patients age 15 to 60 years ...
D. Breems, W. van Putten, G. D. de Greef, S. V. van Zelderen-Bhola, K. Gerssen-Schoorl, C. Mellink, A. Nieuwint, M. Jotterand, A. Hagemeijer, H. Beverloo, B. Löwenberg   +10 more
semanticscholar   +1 more source

Molecular genetics and pathophysiology of 17 beta-hydroxysteroid dehydrogenase 3 deficiency. [PDF]

, 1996
Autosomal recessive mutations in the 17 beta-hydroxysteroid dehydrogenase 3 gene impair the formation of testosterone in the fetal testis and give rise to genetic males with female external genitalia.
Andersson, Stefan, Blethen, Sandra L., Bloise, Walter, Cutler Jr., Gordon B., Davis, Daphne L., Geissler, Wayne M., Griffin, James E., Grumbach, Melvin M., Mendonca, Berenice B., New, Maria I., Russell, David D., Schwarz, Hans P., Wilson, Jean D., Witchel, Selma F., Wu, Ling   +14 more
core   +1 more source

Karyotyping, is it Worthwhile in Transsexualism?

The Journal of Sexual Medicine, 2011
ABSTRACT Introduction Karyotyping is often performed in transsexual individuals. Aim Quantification and characterization of karyotype findings and abnormalities in transsexual persons.
Gunter Heylens, Eva Van Caenegem, Robert Rubens, Guy T'Sjoen, Els Elaut, Adrien Inoubli, Björn Menten, Griet De Cuypere   +7 more
openaire   +3 more sources

ETV2 Overexpression Promotes Efficient Differentiation of Pluripotent Stem Cells to Endothelial Cells

Biotechnology and Bioengineering, EarlyView.
ABSTRACT Differentiating endothelial cells (ECs) from human pluripotent stem cells (hPSCs) typically takes 2 weeks and requires parameter optimization. Overexpression of cell type‐specific transcription factors in hPSCs has shown efficient differentiation into various cell types.
Yunfeng Ding, Soniya Tamhankar, Feifan Du, Tessa Christopherson, Nate Schlueter, Jenna R. Cohen, Eric V. Shusta, Sean P. Palecek   +7 more
wiley   +1 more source