Search Results - "Monteleone, Berrin"

Case report: discovery of 2 gene variants for aromatic L-amino acid decarboxylase deficiency in 2 African American siblings by Monteleone, Berrin, Hyland, Keith

“…Aromatic L-amino acid decarboxylase (AADC) deficiency is a rare genetic disorder with heterogeneous phenotypic spectrum resulting from disease-causing variants…”
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P382: Presentation of dual molecular diagnoses of two patients with neurodevelopmental disorder by Ercelen, Defne, Monteleone, Berrin, McGath, Meghan

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P067: Identification of novel variant in WT1 gene in African-American girl with Denys-Drash syndrome by Lee, Jasmine, McGath, Meghan, Monteleone, Berrin

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Patient selection considerations for AADC deficiency gene therapy by Roubertie, Agathe, Anselm, Irina, Ben-Zeev, Bruria, Wuh-Liang Hwu, Kumar, Ashutosh, Monteleone, Berrin, Muramatsu, Shin-ichi, Leuzzi, Vincenzo, Ibáñez, Salvador, Stone, Scellig, Pearl, Phillip L

“…BackgroundAromatic ʟ-amino acid decarboxylase (AADC) deficiency is a rare, severe neurological disorder caused by pathogenic variants in the dopa decarboxylase…”
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P614: Prenatal diagnosis of anopthalmia with de novo variant in SOX2 by Kidd, Jennifer, Schneider, Emily, Monteleone, Berrin, McGath, Meghan, Chavez, Martin

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P632: Absent ductus venosus as a prenatal ultrasound finding of Noonan syndrome by Schneider, Emily, Kidd, Jennifer, McGath, Meghan, Monteleone, Berrin, Rekawek, Patricia, Chavez, Martin

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Clinical experience: Outcomes of mesenchymal stem cell transplantation in five stroke patients by Ercelen, Nesrin, Karasu, Nilgun, Kahyaoglu, Bulent, Cerezci, Onder, Akduman, Rana Cagla, Ercelen, Defne, Erturk, Gizem, Gulay, Gokay, Alpaydin, Nagihan, Boyraz, Gizem, Monteleone, Berrin, Kural, Zekiye, Silek, Hakan, Temur, Sibel, Bingol, Canan Aykut

“…Stem cell therapy, which has promising results in acute disorders such as stroke, supports treatment by providing rehabilitation in the chronic stage patients…”
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Prenatal diagnosis of bilateral anophthalmia: Identifying de novo SOX2 variant by Kidd, Jennifer, Patberg, Elizabeth, McGath, Meghan, Monteleone, Berrin, Chavez, Martin

“…A 26 year old nulligravida presented at 24 weeks gestation for the second opinion of abnormal fetal profile and mid‐face views on ultrasound at another…”
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ChatGPT: a pioneering approach to complex prenatal differential diagnosis by Suhag, Anju, Kidd, Jennifer, McGath, Meghan, Rajesh, Raeshmma, Gelfinbein, Joseph, Cacace, Nicole, Monteleone, Berrin, Chavez, Martin R.

“…This commentary examines how ChatGPT can assist healthcare teams in the prenatal diagnosis of rare and complex cases by creating a differential diagnoses based…”
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Expert Panel Curation of 113 Primary Mitochondrial Disease Genes for the Leigh Syndrome Spectrum by McCormick, Elizabeth M, Keller, Kierstin, Taylor, Julie P, Coffey, Alison J, Shen, Lishuang, Krotoski, Danuta, Harding, Brian, Gai, Xiaowu, Falk, Marni J, Zolkipli-Cunningham, Zarazuela, Rahman, Shamima

“…Primary mitochondrial diseases (PMDs) are heterogeneous disorders caused by inherited mitochondrial dysfunction. Classically defined neuropathologically as…”
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TRIM71 mutations cause a neurodevelopmental syndrome featuring ventriculomegaly and hydrocephalus by Duy, Phan Q, Jux, Bettina, Zhao, Shujuan, Mekbib, Kedous Y, Dennis, Evan, Dong, Weilai, Nelson-Williams, Carol, Mehta, Neel H, Shohfi, John P, Juusola, Jane, Allington, Garrett, Smith, Hannah, Marlin, Sandrine, Belhous, Kahina, Monteleone, Berrin, Schaefer, G Bradley, Pisarska, Margareta D, Vásquez, Jaime, Estrada-Veras, Juviannee I, Keren, Boris, Mignot, Cyril, Flore, Leigh A, Palafoll, Irene V, Alper, Seth L, Lifton, Richard P, Haider, Shozeb, Moreno-De-Luca, Andres, Jin, Sheng Chih, Kolanus, Waldemar, Kahle, Kristopher T

“…Congenital hydrocephalus (CH), characterized by cerebral ventriculomegaly, is one of the most common reasons for pediatric brain surgery. Recent studies have…”
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DNA methylation episignature for Witteveen-Kolk syndrome due to SIN3A haploinsufficiency by Coenen-van der Spek, Jet, Relator, Raissa, Kerkhof, Jennifer, McConkey, Haley, Levy, Michael A., Tedder, Matthew L., Louie, Raymond J., Fletcher, Robin S., Moore, Hannah W., Childers, Anna, Farrelly, Ellyn R., Champaigne, Neena L., Lyons, Michael J., Everman, David B., Rogers, R. Curtis, Skinner, Steven A., Renck, Alicia, Matalon, Dena R., Dills, Shelley K., Monteleone, Berrin, Demirdas, Serwet, Dingemans, Alexander J.M., Donker Kaat, Laura, Kolk, Sharon M., Pfundt, Rolph, Rump, Patrick, Sadikovic, Bekim, Kleefstra, Tjitske, Butler, Kameryn M.

“…Witteveen-Kolk syndrome (WITKOS) is a rare, autosomal dominant neurodevelopmental disorder caused by heterozygous loss-of-function alterations in the SIN3A…”
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A Novel Case of Marfan Syndrome in an Infant With Hypoplastic Left Heart Syndrome by Karunanandaa, Aravinth, Plant, Kari Crawford, Herlong, James René, Monteleone, Berrin, Kirshbom, Paul M., Schwartz, Matthew C.

“…This report describes a case of hypoplastic left heart syndrome (HLHS) and Marfan syndrome presenting in conjunction, and highlights how a connective tissue…”
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Clinical features associated with copy number variations of the 14q32 imprinted gene cluster by Rosenfeld, Jill A., Fox, Joyce E., Descartes, Maria, Brewer, Fallon, Stroud, Tracy, Gorski, Jerome L., Upton, Sheila J., Moeschler, John B., Monteleone, Berrin, Neill, Nicholas J., Lamb, Allen N., Ballif, Blake C., Shaffer, Lisa G., Ravnan, J. Britt

“…Uniparental disomy (UPD) for imprinted chromosomes can cause abnormal phenotypes due to absent or overexpression of imprinted genes. UPD(14)pat causes a unique…”
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Prenatal diagnosis of bilateral anophthalmia: Identifying de novo SOX2 variant by Kidd, Jennifer, Patberg, Elizabeth, McGath, Meghan, Monteleone, Berrin, Chavez, Martin

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