Results 101 to 110 of about 3,428 (220)

Design and manufacturing of a patient-specific nasal implant for congenital arhinia: Case report

JPRAS Open, 2019
Arhinia (congenital absence of the nose) is a congenital rare disease, which has been reported in less than 60 cases in the literature. It consists of the absence of external nose, nasal cavities and olfactory apparatus and is generally associated with ...
Alessandro Borghi, Federica Ruggiero, Maik Tenhagen, Silvia Schievano, Allan Ponniah, David Dunaway, Justine O'Hara, Juling Ong, Jonathan A. Britto   +8 more
doaj   +1 more source

Establishment of a human induced pluripotent stem cell line, KMUGMCi010-A, from a patient with X-linked Ohdo syndrome bearing missense mutation in the MED12 gene

Stem Cell Research
X-linkded Ohdo syndrome is characterized mainly by intellectual disability, delays in reaching development, feeding difficulties, thyroid dysfunction, and dysmorphic appearance with blepharophimosis, immobile mask-like face and bulbous nose. The X-linked
Hiroki Ura, Sumihito Togi, Hisayo Hatanaka, Yo Niida   +3 more
doaj   +1 more source

Disorders of sex development: insights from targeted gene sequencing of a large international patient cohort [PDF]

, 2016
BACKGROUND: Disorders of sex development (DSD) are congenital conditions in which chromosomal, gonadal, or phenotypic sex is atypical. Clinical management of DSD is often difficult and currently only 13% of patients receive an accurate clinical genetic ...
Bergman, P., Bouty, A., Brown, J., Cameron, F., Eggers, S., et al., Grover, S., Heloury, Y., Hewitt, J., Hutson, J., Kimber, C., Knarston, I., Lambeth, L., O'Connell, M., Ohnesorg, T., Robevska, G., Sadedin, S., Tan, T., van den Bergen, J., Werther, G., Zacharin, M.   +20 more
core   +1 more source

DOES OVARIAN AUTOIMMUNITY PLAY A ROLE IN THE PATHPHYSIOLOGY OF PREMATURE OVARIAN INSUFFICIENCY [PDF]

, 2014
Premature ovarian failure (POF) is a term usually used to describe women younger than 40 years of age who present with amenorrhea. Diagnosis of POF is on the basis of follicle stimulating hormone level in the menopausal range associated with amenorrhea ...
Bakun, Oxana, Sekeiros Peres, Krize, Voitko, Maryna   +2 more
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Management of Patella Dislocation in Say-Barber-Biesecker-Young-Simpson’s Syndrome: A Report of Two Cases

Case Reports in Orthopedics, 2018
Say-Barber-Biesecker-Young-Simpson’s syndrome is one of the Ohdo-like syndromes. It is a very rare congenital condition that is commonly defined by its main clinical features that are blepharophimosis, ptosis, mental retardation, and delayed motor ...
Meni Mundama, Serge Ayong, Renaud Rossillon   +2 more
doaj   +1 more source

Genetic Consultations in Neuroophthalmology [PDF]

, 2017
The geneticist faced with severe neuroophthalmological conditions should not only establish the prognosis on the basis of probability laws, but also take into consideration the prevailing affective and social situation of these patients and their ...
Klein, D.
core  

Familial blepharophimosis syndrome: study of two colombian families and two sporadic cases Síndrome de la blefarotimosis familiar: estudio de dos familias colombianas y dos casos esporádicos

Iatreia, 1989
<p class="MsoNormal"><span style="font-size: 9pt; font-family: Arial">The blepharophimosis syndrome includes several associated anomalies, namely: blepharophimosis, blepharoptosis, epicanthus inversus and telecanthus.
José Luis Ramírez Castro
doaj  

Establishment of a human induced pluripotent stem cell line, KMUGMCi009-A, from a patient bearing a missense mutation in the MED12 gene leading X-linked Ohdo syndrome

Stem Cell Research
X-linked Ohdo syndrome is a heterogenous group of disorders characterized by intellectual disability and typical facial features including blepharophimosis.
Hiroki Ura, Sumihito Togi, Hisayo Hatanaka, Yo Niida   +3 more
doaj   +1 more source

Structure, evolution and expression of the FOXL2 transcription unit [PDF]

, 2003
COCQUET, J, De Baere, Elfride, FELLOUS, M, GAREIL, M, PANNETIER, M, VEITIA, RA, XIA, X   +6 more
core   +2 more sources

Inherited epithelial transporter disorders—an overview [PDF]

, 2018
Summary: In the late 1990s, the identification of transporters and transporter-associated genes progressed substantially due to the development of new cloning approaches such as expression cloning and, subsequently, to the implementation of the human ...
Bergeron, M., Bürzle, M., Hediger, M., Simonin, A.   +3 more
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