Results 101 to 110 of about 7,380,135 (306)

Severe Headbanging Responsive to Levodopa in a Child With FOXP1 Syndrome

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT We report a 9‐year‐old female with FOXP1 syndrome due to a de novo in‐frame deletion in the FOXP1 gene. The child has a severe neurodevelopmental disorder including global developmental delay and autism spectrum disorder. At age 2, she developed severe headbanging, which was progressive and did not respond to multidisciplinary, behavioral ...
Pamela Veale, Christopher Tiessen, Vithya Gnanakumar   +2 more
wiley   +1 more source

Descriptive Epidemiology From the Myhre Syndrome Foundation Registry: The Value of Self‐Reported Data

American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.
ABSTRACT Myhre syndrome is an ultrarare genetic disease characterized by short stature, distinct craniofacial features, cardiovascular and respiratory fibrosis and stenosis, neurodevelopmental delays, autism, intellectual disability, and hearing loss. The natural history of Myhre syndrome is still not fully understood due to a small patient population ...
Mary K. Young, Armelle Pindon, Maggie R. Brand, Kate Wears, Katherine H. Young, Alyssa Mendel, Michael J. Lyons   +6 more
wiley   +1 more source

Staffing, activities, and infrastructure in 96 specialised adult congenital heart disease clinics in Europe. [PDF]

, 2019
BACKGROUND: Clinical guidelines emphasise the need for specialised adult congenital heart disease (ACHD) programmes. In 2014, the working group on Grown-up Congenital Heart Disease of the European Society of Cardiology (ESC) published recommendations on ...
Moons, Philip, Roos-Hesselink, Jolien, Gabriel, Harald, Thomet, C, Gallego, Pastora, Webb, G, Gallego, P, Schwerzmann, Markus, Chessa, M, Thomet, Corina, ESC Working Group on Grown-up Congenital Heart Disease, Moons, P, Budts, W, Budts, Werner, Swan, Lorna, De Backer, Julie, Working Group on Grown-up Congenital Heart Disease, ESC, Giamberti, A, Diller, Gerhard, Roos - Hesselink, Jolien, Roos-Hesselink, J, Webb, Gary, Schwerzmann, M, Giamberti, Alessandro, Eicken, Andreas, Chessa, Massimo, Eicken, A, Diller, G, Swan, L, Backer, J, Gabriel, H   +30 more
core   +1 more source

Therapy for Myhre Syndrome: Goals, Misconceptions, and Current Agents

American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.
ABSTRACT Myhre Syndrome (MYHRS, MIM #139210) is a rare, multisystem connective tissue disorder caused by recurrent heterozygous gain‐of‐function pathogenic variants in the SMAD4 gene, a key player in TGF‐β signaling and a regulator of extracellular matrix homeostasis.
Alessandro De Falco, Alfonso Manuel D'Alessio, Nicola Brunetti‐Pierri   +2 more
wiley   +1 more source

Review of the Molecular and Developmental Basis of Myhre Syndrome, Bench Research

American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.
ABSTRACT Myhre syndrome (MS) is a connective‐tissue disorder within the acromelic dysplasia spectrum. It is characterized by congenital craniofacial, skeletal, cutaneous anomalies, respiratory, cardiovascular along with intellectual disability, deafness, and progressive fibrosis.
Camille Viaut, Valerie Cormier‐Daire
wiley   +1 more source

Chances of Employment in a Population of Women and Men after Surgery of Congenital Heart Disease: Gender-Specific Comparisons between Patients and the General Population [PDF]

It was examined whether women and men (17-45 years) with operated congenital heart disease (CHD) differ with respect to chances of employment. Patients were compared with the general population.
Kambiz Norozi, Siegfried Geyer, Armin Wessel, Reiner Buchhorn   +3 more
core  

A Novel Splice Variant in ERGIC1 Causes Arthrogryposis Multiplex Congenita—Characterization Using Urine‐Derived Cells

American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.
ABSTRACT Arthrogryposis multiplex congenita (AMC) is defined as the presence of joint contractures affecting at least two body regions at birth. Three different ERGIC1 variants have been reported in individuals with AMC. Here, we report on a 16‐year‐old male with a homozygous ERGIC1 c.250+1G>A variant that was classified as a variant of uncertain ...
Lauren Kerr, Paul McKay, Juliana Marulanda, Zenghui Wu, Reggie Hamdy, Sena Tavukcu, Noémi Dahan‐Oliel, Frank Rauch   +7 more
wiley   +1 more source

Congenital Heart Disease

, 2018
Congenital Heart Disease is a general term for a range of birth defects that affect the normal workings of the heart. It is one of the most common types of birth defect occurring in 1% of live births and affects up to 9 in every 1,000 babies born in the ...

core   +1 more source

Posthumously Diagnosed Myhre Syndrome Presenting With Pleural Remodeling and Endometrial Cancer

American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.
ABSTRACT Myhre syndrome (OMIM 139210) is a genetic condition defined by neurodevelopmental disability, characteristic facial features, and multisystem proliferative fibrosis. While various types of lung disease have been reported, pleural remodeling leading to restrictive lung disease has not yet been described.
Jeanette Saffir, Karee Morgan, Karigynn Chaimson, Blake E. Funke, Kim L. Sandler, Melissa Hogan, Thomas Cassini   +6 more
wiley   +1 more source

Heart Murmur in Neonates: How Often Is It Caused by Congenital Heart Disease [PDF]

Objective: Congenital heart disease (CHD) is the most common form of cardiovascular diseases in children. This study was performed from September 2006 to August 2007 in Ardebil, Westnorthern Iran.
انتشاری مقدم, افسانه, دوستکامی, حسین, میرزا رحیمی, مهرداد, عیسی زاده فر, خاطره, علی پور, رقیه, سعادتی, حکیمه   +5 more
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