Results 171 to 180 of about 387,443 (303)

Phenotype Expansion of Malan Syndrome: New Cases and a Review of the Literature

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Malan syndrome is an ultra‐rare overgrowth syndrome caused by pathogenic variants or deletions in nuclear factor one X (NFIX) located at 19p13.2. Here, we report a comprehensive literature review and phenotyping of known patients with Malan syndrome and present a novel cohort of eight patients.
Alex F. Nisbet, Sylvie A. Adams, Zoe S. Katz, Christal G. Delagrammatikas, Kosuke Izumi, Winifred Sigal, Kim Ventarola, Elaine H. Zackai, Julia E. Reid, Grant T. Liu, Jennifer M. Kalish   +10 more
wiley   +1 more source

Clinical validation of the Rapid Cough Questionnaire across diverse lung diseases. [PDF]

BMJ Open Respir Res
Koo HK, An TJ, Joo H, Rhee CK, Kim YH, Kim SK, Min KH, Kim DK, Shin JW, Yoon HK, Jang SH, Park YB, Kim JW, Moon JY, Korean Cough Study Group in the Korean Academy of Tuberculosis and Respiratory Disease (KATRD).   +14 more
europepmc   +1 more source

De Novo 2.2 Mb 19q13.42–q13.43 Microdeletion Encompassing U2AF2: Support for a Haploinsufficiency Model

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT U2 small nuclear RNA auxiliary factor 2 (U2AF2) is an essential pre‐mRNA splicing factor involved in the early stages of pre‐mRNA splicing. To date, multiple individuals have been reported with predominantly heterozygous missense variants presenting intellectual disability, speech and motor delays, seizures, hypotonia, and thin or hypoplastic ...
Amanda Toledo, Sarah Araji, Weimin Bi, Seema R. Lalani   +3 more
wiley   +1 more source

The effect of smoking on the severity, and mechanisms of acute exacerbations of chronic obstructive pulmonary disease (COPD)

, 2008
COPD (Chronic Obstructive Pulmonary Disease) worldwide has a prevalence of10% in men and 8.5% in women. Exacerbations of COPD account forapproximately 10% of all acute medical admissions.
Bourne, Simon Charles
core  

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

The impact of neoadjuvant chemoimmunotherapy on pulmonary function in non-small cell lung cancer patients. [PDF]

Transl Lung Cancer Res
Zeng A, Xu Z, Abuduwayiti A, Wang J, Yin Y, Chen K, Wang M, Zhou X, Dai J.   +8 more
europepmc   +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

Type 2 Diabetes Mellitus and Chronic Obstructive Pulmonary Disease - from Pathophysiology to Effective Management Overview. [PDF]

Int J Chron Obstruct Pulmon Dis
Prisacaru V, Covantsev S, Ceasovschih A, Sivapalan P, Tural S, Corlateanu A, Deleanu OC.   +6 more
europepmc   +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

Mobile health for chronic obstructive pulmonary disease: a bibliometric analysis based on integrated databases (2000-2025). [PDF]

Front Med (Lausanne)
Liu Y, Yang X, Liu X, Wang R.
europepmc   +1 more source