Results 101 to 110 of about 50,330 (260)

Distinct DNA methylation profiles in subtypes of orofacial cleft [PDF]

, 2017
Background Epigenetic data could help identify risk factors for orofacial clefts, either by revealing a causal role for epigenetic mechanisms in causing clefts or by capturing information about causal genetic or environmental factors.
Davey Smith, George, Davies, Amy, Ho, Karen, Humphries, Kerry, Lewis, Sarah, McArdle, Wendy, Relton, Caroline, Sandy, Jonathan, Sharp, Gemma, Stergiakouli, Evie   +9 more
core   +3 more sources

Targeted Anti‐IL‐1 Immunomodulatory Therapy in Pediatric Onset PPP1R13L‐Related Arrhythmogenic Cardiomyopathy

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Autosomal recessive loss‐of‐function variants in PPP1R13L cause an ultra‐rare cardiocutaneous syndrome characterized by rapidly progressive arrhythmogenic cardiomyopathy (ACM). PPP1R13L encodes iASPP, which has two potentially overlapping mechanisms driving ACM as both a regulator of NFκB‐mediated inflammation and a binding partner within the ...
Aaron Renberg, Savannah Coppersmith, Owen Merritt, Amer Heider, Adam Helms, Thomas Michniacki, Jack Luxford, Sarah Josephi‐Taylor, Philip Roberts, Joshua Meisner   +9 more
wiley   +1 more source

The Diagnosis That Arrived Decades Late: Living Without and Then With Myhre Syndrome

American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.
ABSTRACT Myhre syndrome (MIM #139210) is a rare multisystem disorder first described in 1981, characterized by short stature, neurodevelopmental delay, joint contractures, and cardiopulmonary complications. Its molecular basis, recurrent pathogenic variants in SMAD4, was not discovered until 2011. This narrative is based on a review of medical records,
Abdallah F. Elias
wiley   +1 more source

Pilot epidemiological study of cleft lip and/or palate inh Kota Kinabalu, Sabah

Asian Journal of Medical Sciences, 2013
Objective: To identify number of cases and the type of cleft lip and/or palate managed in government tertiary center (Queen Elizabeth Hospital) in Kota Kinabalu; and to analyze the associative factors of cleft lip and/or palate.
Chai Siew Cheng
doaj   +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

Evaluation of the intercanine distance in newborns with cleft lip and palate using 3D digital casts

Journal of Applied Oral Science, 2013
OBJECTIVE: The purpose of this present study was to compare, by means of 3D digital casts, the anterior transverse dimension of the dental arch of newborns with and without cleft lip and palate.
Bianca Zeponi Fernandes Mello, Viviane Mendes Fernandes, Cleide Felicio Carvalho Carrara, Maria Aparecida Andrade Moreira Machado, Daniela Gamba Garib, Thais Marchini Oliveira   +5 more
doaj   +1 more source

Spectrum of Congenital Anomalies in Myhre Syndrome—Insights Into Effects Brought by Altered TGF‐β Signaling via Gain‐of‐Function Variants in SMAD4

American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.
ABSTRACT Myhre syndrome is a rare genetic disorder characterized by progressive multisystem involvement. Gain‐of‐function missense heterozygous variants affecting the Ile500 residue and Arg496 residue of the SMAD4 gene are implicated in this condition.
Kawmadi Gunawardena, Alessandro De Falco, Deborah Osio, Eleanor Sherlock, Emma Kivuva, Erina Sasaki, Francis H. Sansbury, Nayana Lahiri, Patricia Foley, Sahar Mansour, Shane McKee, Tazeen Ashraf, Nicola Brunetti‐Pierri, Usha Kini   +13 more
wiley   +1 more source

The Concept of Unilateral Cleft Lip Repair

Journal of Plastic and Reconstructive Surgery, 2023
Surgical treatment of unilateral cleft lip is a difficult procedure, partly because many anatomical variants exist. The cleft lip has no excess tissue; hence, tissue from the cleft side cannot reach the normal side, even if all white lip tissue from the ...
Hitoshi Nemoto, Noriyoshi Sumiya
doaj  

Novel GREM1 Variations in Sub-Saharan African Patients With Cleft Lip and/or Cleft Palate [PDF]

, 2018
Objective: Cleft lip and/or cleft palate (CL/P) are congenital anomalies of the face and have multifactorial etiology, with both environmental and genetic risk factors playing crucial roles.
Abdur-Rahman, Lukman O., Adeyemo, A. A., Adeyemo, Wasiu Lanre, Agbenorku, Pius, Aregbesola, Babatunde S., Audu, Rosemary, Bello, Seidu A., Busch, Tamara D., Butali, Azeez, Donkor, Peter, Eshete, Mekonen A., Gowans, Lord Jephthah Joojo, Marazita, Mary L., Mossey, Peter A., Murray, Jeffrey C., Obiri-Yeboah, Solomon, Oginni, Fadekemi, Ogunlewe, Mobolanle O., Olaitan, Peter B., Onwuamah, Chika, Oseni, Ganiyu, Oti, Alexander A., Owais, Arwa, Plange-Rhule, Gyikua   +23 more
core   +3 more sources

Co‐Occurring Non‐Cardiac Congenital Anomalies Among Cases With Congenital Heart Defects

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Cases with congenital heart defects (CHD) often have other associated anomalies. The aim of this investigation was to assess the prevalence and the types of co‐occurring anomalies in CHD in a well‐defined population. The anomalies co‐occurring with CHD were ascertained in all live births, stillbirths and terminations of pregnancy for fetal ...
Claude Stoll, Yves Alembik, Marie‐Paule Roth   +2 more
wiley   +1 more source