J. Pellegrino

发表

Newborn screening for Krabbe disease: the New York State model.

B. Kosofsky, T. Naidich, J. Provenzale, 2009, Pediatric neurology.

Newborn screening for Krabbe disease in New York State: the first eight years’ experience

Matthew J. Nichols, J. Kurtzberg, P. Galvin-Parton, 2016, Genetics in Medicine.

Lack of genotype-phenotype correlations and outcome in MCAD deficiency diagnosed by newborn screening in New York State.

Matthew J. Nichols, P. Galvin-Parton, M. Caggana, 2010, Molecular genetics and metabolism.

Further clinical delineation and increased morbidity in males with osteopathia striata with cranial sclerosis: an X-linked disorder?

E. Zackai, R. Markowitz, D. McDonald-McGinn, 1997, American journal of medical genetics.

Mosaicism for a chromosome 8-derived minute marker chromosome in a patient with manifestations of trisomy 8 mosaicism.

E. Zackai, N. Spinner, D. McDonald-McGinn, 1995, American journal of medical genetics.

Clinical and molecular analysis in Joubert syndrome.

M. Muenke, M. Lensch, P. Chance, 1997, American journal of medical genetics.

Diagnostic Exome Sequencing and Tailored Bioinformatics of the Parents of a Deceased Child with Cobalamin Deficiency Suggests Digenic Inheritance of the MTR and LMBRD1 Genes.

Xiang Li, X. Li, E. Chao, 2014, JIMD reports.

The critical role of psychosine in screening, diagnosis, and monitoring of Krabbe disease

M. Gelb, J. Kurtzberg, P. Rinaldo, 2020, Genetics in Medicine.

A diagnosis of Birt–Hogg–Dubé syndrome in individuals with Smith–Magenis syndrome: Recommendation for cancer screening

C. Vocke, W. Linehan, Leah Fleming, 2022, American journal of medical genetics. Part A.

Hereditary neuralgic amyotrophy: evidence for genetic homogeneity and mapping to chromosome 17q25

T. Rebbeck, T. Bird, M. Farlow, 1997, Human Genetics.

Clinical outcomes of children with abnormal newborn screening results for Krabbe disease in New York State

T. Naidich, J. Provenzale, J. Kurtzberg, 2016, Genetics in Medicine.

Hepatic Hemangioendothelioma: Prenatal Sonographic Findings and Evolution of the Lesion

A. Vintzileos, E. Guzman, N. Meirowitz, 2000, Journal of clinical ultrasound : JCU.

Low Psychosine in Krabbe Disease with Onset in Late Infancy: A Case Report

D. Matern, J. Orsini, J. Pellegrino, 2021, International journal of neonatal screening.

Newborn screening for X-linked adrenoleukodystrophy in New York State: diagnostic protocol, surveillance protocol and treatment guidelines.

G. Raymond, J. Orsini, M. Caggana, 2015, Molecular genetics and metabolism.

The critical role of psychosine in screening, diagnosis, and monitoring of Krabbe disease

M. Gelb, J. Kurtzberg, P. Rinaldo, 2020, Genetics in Medicine.

Clinical Nosologic and Genetic Aspects of Joubert and Related Syndromes

M. Koenig, W. Dobyns, P. Chance, 1999, Journal of child neurology.

Myoclonus‐dystonia syndrome associated with Russell Silver syndrome

J. Mink, E. Augustine, J. Pellegrino, 2013, Movement disorders : official journal of the Movement Disorder Society.

Ablepharon macrostomia syndrome with associated cutis laxa: Possible localization to 18q

E. Zackai, N. Spinner, R. Schnur, 1996, Human Genetics.

Developmental profile in a patient with monosomy 10q and dup(17p) associated with a peripheral neuropathy.

E. Zackai, N. Spinner, J. Sladky, 1996, American journal of medical genetics.

Mapping of hereditary neuralgic amyotrophy (familial brachial plexus neuropathy) to distal chromosome 17q

T. Rebbeck, T. Bird, P. Chance, 1996, Neurology.

Symphyseal Separation

W. O'Brien, G. Enns, Keiko Kobayashi, 2005, Obstetrics and gynecology.

Mosaic loss of 15q11q13 in a patient with hypomelanosis of Ito: is there a role for the P gene?

E. Zackai, N. Spinner, R. Schnur, 1994, Human Genetics.

Occupational physical activity and the occurrence of spontaneous abortion.

G. Zielhuis, E. Florack, J. Pellegrino, 1993, International journal of epidemiology.

Genetics Casebook

D. Day-Salvatore, A. Fisher, I. Krasna, 1999, Journal of Perinatology.

Oculo-palatal-cerebral syndrome: a second case.

D. Day-Salvatore, J. Pellegrino, J. Engel, 2001, American journal of medical genetics.