Works matching IS 15524825 AND DT 2020 AND VI 182 AND IP 8

Results: 30

In This Issue.

Published in:: American Journal of Medical Genetics. Part A, 2020, v. 182, n. 8, p. 1857, doi. 10.1002/ajmg.a.61770
Publication type:: Article

Cover Image, Volume 182A, Number 8, August 2020.

Published in:: American Journal of Medical Genetics. Part A, 2020, v. 182, n. 8, p. i, doi. 10.1002/ajmg.a.61500
Publication type:: Article

A homozygous truncating NALCN variant in two Afro‐Caribbean siblings with hypotonia and dolichocephaly.

Published in:

American Journal of Medical Genetics. Part A, 2020, v. 182, n. 8, p. 1877, doi. 10.1002/ajmg.a.61744

By:

Ope, Omotayo;
Bhoj, Elizabeth J.;
Nelson, Beverly;
Li, Dong;
Hakonarson, Hakon;
Sobering, Andrew K.

Publication type:

Article

Beneficial effect of gabapentin in two children with Noonan syndrome and early‐onset neuropathic pain.

Published in:

American Journal of Medical Genetics. Part A, 2020, v. 182, n. 8, p. 1990, doi. 10.1002/ajmg.a.61733

By:

Cortellazzo Wiel, Luisa;
De Nardi, Laura;
Magnolato, Andrea;
Sirchia, Fabio;
Bruno, Irene;
Barbi, Egidio

Publication type:

Article

Developmental delay, intellectual disability, short stature, subglottic stenosis, hearing impairment, onychodysplasia of the index fingers, and distinctive facial features: A newly reported autosomal recessive syndrome.

Published in:

American Journal of Medical Genetics. Part A, 2020, v. 182, n. 8, p. 1865, doi. 10.1002/ajmg.a.61730

By:

Mégarbané, André;
Hana, Sayeeda;
El‐Hayek, Stephany;
Gambarini, Alicia;
Al‐Ali, Mahmoud Taleb;
Delague, Valérie

Publication type:

Article

New Syndrome Associated with Germline Variants in TRAF7.

Published in:: American Journal of Medical Genetics. Part A, 2020, v. 182, n. 8, p. 1855, doi. 10.1002/ajmg.a.61728
Publication type:: Article

Kabuki syndrome with midgut malrotation and hyperinsulinemic hypoglycemia: A rare co‐occurrence from Thailand.

Published in:

American Journal of Medical Genetics. Part A, 2020, v. 182, n. 8, p. 1873, doi. 10.1002/ajmg.a.61723

By:

Phetthong, Tim;
Tim‐Aroon, Thipwimol;
Khongkrapan, Arthaporn;
Poomthavorn, Preamrudee;
Wattanasirichaigoon, Duangrurdee

Publication type:

Article

The dark side of COVID‐19: The need of integrated medicine for children with special care needs.

Published in:

American Journal of Medical Genetics. Part A, 2020, v. 182, n. 8, p. 1988, doi. 10.1002/ajmg.a.61722

By:

Leoni, Chiara;
Giorgio, Valentina;
Onesimo, Roberta;
Tarani, Luigi;
Celli, Mauro;
Selicorni, Angelo;
Zampino, Giuseppe

Publication type:

Article

TUBB3 E410K syndrome: Case report and review of the clinical spectrum of TUBB3 mutations.

Published in:

American Journal of Medical Genetics. Part A, 2020, v. 182, n. 8, p. 1977, doi. 10.1002/ajmg.a.61719

By:

Dentici, Maria L.;
Maglione, Vittorio;
Agolini, Emanuele;
Catena, Gino;
Capolino, Rossella;
Lanari, Valentina;
Novelli, Antonio;
Sinibaldi, Lorenzo;
Vecchio, Davide;
Gonfiantini, Michaela V.;
Macchiaiolo, Marina;
Digilio, Maria C.;
Dallapiccola, Bruno;
Bartuli, Andrea

Publication type:

Article

Diffuse infantile hepatic hemangiomas in a patient with Beckwith–Wiedemann syndrome: A new association?

Published in:

American Journal of Medical Genetics. Part A, 2020, v. 182, n. 8, p. 1972, doi. 10.1002/ajmg.a.61718

By:

Macchiaiolo, Marina;
Markowich, Anna H.;
Diociaiuti, Andrea;
Gonfiantini, Michaela V.;
Buonuomo, Paola S.;
Rana, Ippolita;
Monti, Lidia;
El Hachem, May;
Bartuli, Andrea

Publication type:

Article

Confirming TBC1D32‐related ciliopathy in humans.

Published in:

American Journal of Medical Genetics. Part A, 2020, v. 182, n. 8, p. 1985, doi. 10.1002/ajmg.a.61717

By:

Alsahan, Nada;
Alkuraya, Fowzan S.

Publication type:

Article

Characterization of sleep habits and medication outcomes for sleep disturbance in children and adults with Angelman syndrome.

Published in:

American Journal of Medical Genetics. Part A, 2020, v. 182, n. 8, p. 1913, doi. 10.1002/ajmg.a.61642

By:

Pereira, Joseph A.;
Ravichandran, Caitlin T.;
Mullett, Jennifer;
McDougle, Christopher J.;
Keary, Christopher J.

Publication type:

Article

Estimating the relative frequency of leukodystrophies and recommendations for carrier screening in the era of next‐generation sequencing.

Published in:

American Journal of Medical Genetics. Part A, 2020, v. 182, n. 8, p. 1906, doi. 10.1002/ajmg.a.61641

By:

Schmidt, Johanna L.;
Pizzino, Amy;
Nicholl, Jessica;
Foley, Allison;
Wang, Yue;
Rosenfeld, Jill A.;
Mighion, Lindsey;
Bean, Lora;
Silva, Cristina;
Cho, Megan T.;
Truty, Rebecca;
Garcia, John;
Speare, Virginia;
Blanco, Kirsten;
Powis, Zoe;
Hobson, Grace M.;
Kirwin, Susan;
Krock, Bryan;
Lee, Hane;
Deignan, Joshua L.

Publication type:

Article

Improvement in ventriculomegaly following cervicomedullary decompressive surgery in children with achondroplasia and foramen magnum stenosis.

Published in:

American Journal of Medical Genetics. Part A, 2020, v. 182, n. 8, p. 1896, doi. 10.1002/ajmg.a.61640

By:

Kashanian, Alon;
Chan, Julie;
Mukherjee, Debraj;
Pressman, Barry D.;
Krakow, Deborah;
Danielpour, Moise

Publication type:

Article

Genetic diagnoses and associated anomalies in fetuses prenatally diagnosed with esophageal atresia.

Published in:

American Journal of Medical Genetics. Part A, 2020, v. 182, n. 8, p. 1890, doi. 10.1002/ajmg.a.61639

By:

Rohanizadegan, Mersedeh;
Tracy, Sarah;
Galarreta, Carolina I.;
Poorvu, Tabitha;
Buchmiller, Terry L.;
Bird, Lynne M.;
Estroff, Judy A.;
Tan, Wen‐Hann

Publication type:

Article

A case report of Noonan syndrome‐like disorder with loose anagen hair 2 treated with recombinant human growth hormone.

Published in:

American Journal of Medical Genetics. Part A, 2020, v. 182, n. 8, p. 1967, doi. 10.1002/ajmg.a.61638

By:

Zhou, Ping;
Zhu, Lin;
Fan, Qiongli;
Liu, Yongfang;
Zhang, Tianxiu;
Yang, Ting;
Chen, Jie;
Cheng, Qian;
Li, Tingyu;
Chen, Li

Publication type:

Article

Baraitser–Winter cerebrofrontofacial syndrome: Report of two adult siblings.

Published in:

American Journal of Medical Genetics. Part A, 2020, v. 182, n. 8, p. 1923, doi. 10.1002/ajmg.a.61637

By:

Hampshire, Karly;
Martin, Pierre‐Marie;
Carlston, Colleen;
Slavotinek, Anne

Publication type:

Article

Recessive ACO2 variants as a cause of isolated ophthalmologic phenotypes.

Published in:

American Journal of Medical Genetics. Part A, 2020, v. 182, n. 8, p. 1960, doi. 10.1002/ajmg.a.61634

By:

Gibson, Shelley;
Azamian, Mahshid S.;
Lalani, Seema R.;
Yen, Kimberly G.;
Sutton, V. Reid;
Scott, Daryl A.

Publication type:

Article

Ectopia lentis in Loeys‐Dietz syndrome type 4.

Published in:

American Journal of Medical Genetics. Part A, 2020, v. 182, n. 8, p. 1957, doi. 10.1002/ajmg.a.61633

By:

Braverman, Alan C.;
Blinder, Kevin J.;
Khanna, Sangeeta;
Willing, Marcia

Publication type:

Article

Expanding the phenotype of biallelic RNPC3 variants associated with growth hormone deficiency.

Published in:

American Journal of Medical Genetics. Part A, 2020, v. 182, n. 8, p. 1952, doi. 10.1002/ajmg.a.61632

By:

Verberne, Eline A.;
Faries, Sonja;
Mannens, Marcel M. A. M.;
Postma, Alex V.;
Haelst, Mieke M.

Publication type:

Article

A pathogenic variant in the SETBP1 hotspot results in a forme‐fruste Schinzel–Giedion syndrome.

Published in:

American Journal of Medical Genetics. Part A, 2020, v. 182, n. 8, p. 1947, doi. 10.1002/ajmg.a.61630

By:

Sullivan, Jennifer A.;
Stong, Nicholas;
Baugh, Evan H.;
McDonald, Marie T.;
Takeuchi, Akihito;
Shashi, Vandana

Publication type:

Article

Bi‐allelic loss‐of‐function novel variants in LTBP3‐related skeletal dysplasia: Report of first patient from India.

Published in:

American Journal of Medical Genetics. Part A, 2020, v. 182, n. 8, p. 1944, doi. 10.1002/ajmg.a.61629

By:

Kaur, Ravneet;
Siddiqui, Ishrat;
Mathur, Vijay;
Jana, Manisha;
Kabra, Madhulika;
Gupta, Neerja

Publication type:

Article

Ectrodactyly‐ectodermal dysplasia‐clefting syndrome presenting with bilateral choanal atresia and rectal stenosis.

Published in:

American Journal of Medical Genetics. Part A, 2020, v. 182, n. 8, p. 1939, doi. 10.1002/ajmg.a.61628

By:

Childs, Alexandra J.;
Mabin, David C.;
Turnpenny, Peter D.

Publication type:

Article

Fulminant myocarditis following recurrent generalized erythrokeratoderma in a child with a heterozygous GJA1 variant.

Published in:

American Journal of Medical Genetics. Part A, 2020, v. 182, n. 8, p. 1933, doi. 10.1002/ajmg.a.61626

By:

Kobayashi, Hironobu;
Shiohama, Tadashi;
Nakashima, Mitsuko;
Saitsu, Hirotomo;
Suga, Yasushi;
Ebata, Ryota;
Shimojo, Naoki

Publication type:

Article

Here and now.

Published in:

American Journal of Medical Genetics. Part A, 2020, v. 182, n. 8, p. 1859, doi. 10.1002/ajmg.a.61622

By:

Alkuraya, Ibrahim F.

Publication type:

Article

Genotype and phenotype correlation in a family with a 2q37 deletion downstream of HDAC4.

Published in:

American Journal of Medical Genetics. Part A, 2020, v. 182, n. 8, p. 1861, doi. 10.1002/ajmg.a.61620

By:

Moretti, Patricia N.;
Figueiredo, Ana Carolina V.;
Saliba, Aline;
Versiani, Beatriz R.;
Oliveira, Silviene F.;
Pic‐Taylor, Aline;
Mazzeu, Juliana F.

Publication type:

Article

Neurodevelopmental outcome of prenatally diagnosed boys with 47,XXY (Klinefelter syndrome) and the potential influence of early hormonal therapy.

Published in:

American Journal of Medical Genetics. Part A, 2020, v. 182, n. 8, p. 1881, doi. 10.1002/ajmg.a.61561

By:

Samango‐Sprouse, Carole A.;
Tran, Selena L.;
Lasutschinkow, Patricia C.;
Sadeghin, Teresa;
Powell, Sherida;
Mitchell, Francie L.;
Gropman, Andrea

Publication type:

Article

Publication schedule for 2020.

Published in:: American Journal of Medical Genetics. Part A, 2020, v. 182, n. 8, p. 1853, doi. 10.1002/ajmg.a.61240
Publication type:: Article

Table of Contents, Volume 182A, Number 8, August 2020.

Published in:: American Journal of Medical Genetics. Part A, 2020, v. 182, n. 8, p. 1849, doi. 10.1002/ajmg.a.61239
Publication type:: Article

New Subtype Proposed for Myelodysplastic Syndrome.

Published in:: American Journal of Medical Genetics. Part A, 2020, v. 182, n. 8, p. 1854, doi. 10.1002/ajmg.a.61238
Publication type:: Article