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