Jonathan (Jon) Zonana

Professor

  • 4970 Citations
  • 33 h-Index
1975 …2018
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Research Output 1975 2018

  • 4970 Citations
  • 33 h-Index
  • 80 Article
  • 1 Chapter
2018
21 Citations (Scopus)

Genotype-Phenotype Correlation in NF1: Evidence for a More Severe Phenotype Associated with Missense Mutations Affecting NF1 Codons 844–848

Koczkowska, M., Chen, Y., Callens, T., Gomes, A., Sharp, A., Johnson, S., Hsiao, M. C., Chen, Z., Balasubramanian, M., Barnett, C. P., Becker, T. A., Ben-Shachar, S., Bertola, D. R., Blakeley, J. O., Burkitt-Wright, E. M. M., Callaway, A., Crenshaw, M., Cunha, K. S., Cunningham, M., D'Agostino, M. D. & 55 others, Dahan, K., De Luca, A., Destrée, A., Dhamija, R., Eoli, M., Evans, D. G. R., Galvin-Parton, P., George-Abraham, J. K., Gripp, K. W., Guevara-Campos, J., Hanchard, N. A., Hernández-Chico, C., Immken, L. D., Janssens, S., Jones, K. J., Keena, B. A., Kochhar, A., Liebelt, J., Martir-Negron, A., Mahoney, M. J., Maystadt, I., McDougall, C., McEntagart, M., Mendelsohn, N., Miller, D. T., Mortier, G., Morton, J., Pappas, J., Plotkin, S. R., Pond, D., Rosenbaum, K., Rubin, K., Russell, L., Rutledge, L. S., Saletti, V., Schonberg, R., Schreiber, A., Seidel, M., Siqveland, E., Stockton, D. W., Trevisson, E., Ullrich, N. J., Upadhyaya, M., van Minkelen, R., Verhelst, H., Wallace, M. R., Yap, Y. S., Zackai, E., Zonana, J. J., Zurcher, V., Claes, K., Martin, Y., Korf, B. R., Legius, E. & Messiaen, L. M., Jan 4 2018, In : American Journal of Human Genetics. 102, 1, p. 69-87 19 p.

Research output: Contribution to journalArticle

Neurofibromatosis 1
Genetic Association Studies
Missense Mutation
Codon
Phenotype
2017
7 Citations (Scopus)

PUF60 variants cause a syndrome of ID, short stature, microcephaly, coloboma, craniofacial, cardiac, renal and spinal features

Low, K. J., Ansari, M., Abou Jamra, R., Clarke, A., El Chehadeh, S., FitzPatrick, D. R., Greenslade, M., Henderson, A., Hurst, J., Keller, K., Kuentz, P., Prescott, T., Roessler, F., Selmer, K. K., Schneider, M. C., Stewart, F., Tatton-Brown, K., Thevenon, J., Vigeland, M. D., Vogt, J. & 4 others, Willems, M., Zonana, J. J., Study, D. D. D. & Smithson, S. F., Mar 22 2017, (Accepted/In press) In : European Journal of Human Genetics.

Research output: Contribution to journalArticle

Coloboma
Microcephaly
Kidney
Exome
Lip
2016
5 Citations (Scopus)

Increased Wnt and Notch signaling: a clue to the renal disease in Schimke immuno-osseous dysplasia?

Morimoto, M., Myung, C., Beirnes, K., Choi, K., Asakura, Y., Bokenkamp, A., Bonneau, D., Brugnara, M., Charrow, J., Colin, E., Davis, A., Deschenes, G., Gentile, M., Giordano, M., Gormley, A. K., Govender, R., Joseph, M., Keller, K., Lerut, E., Levtchenko, E. & 11 others, Massella, L., Mayfield, C., Najafian, B., Parham, D., Spranger, J., Stenzel, P., Yis, U., Yu, Z., Zonana, J. J., Hendson, G. & Boerkoel, C. F., Nov 5 2016, In : Orphanet Journal of Rare Diseases. 11, 1, p. 1-12 12 p.

Research output: Contribution to journalArticle

Kidney
Chromatin
Actins
Focal Segmental Glomerulosclerosis
Wnt Signaling Pathway
2 Citations (Scopus)

The importance of chilblains as a diagnostic clue for mild Aicardi-Goutières syndrome

Yarbrough, K., Danko, C., Krol, A., Zonana, J. J. & Leitenberger, S., 2016, (Accepted/In press) In : American Journal of Medical Genetics, Part A.

Research output: Contribution to journalArticle

Chilblains
Aicardi Syndrome
Neurologic Manifestations
Frameshift Mutation
Raynaud Disease
2015
44 Citations (Scopus)

High Incidence of Noonan Syndrome Features Including Short Stature and Pulmonic Stenosis in Patients carrying NF1 Missense Mutations Affecting p.Arg1809: Genotype-Phenotype Correlation

Rojnueangnit, K., Xie, J., Gomes, A., Sharp, A., Callens, T., Chen, Y., Liu, Y., Cochran, M., Abbott, M. A., Atkin, J., Babovic-Vuksanovic, D., Barnett, C. P., Crenshaw, M., Bartholomew, D. W., Basel, L., Bellus, G., Ben-Shachar, S., Bialer, M. G., Bick, D., Blumberg, B. & 53 others, Cortes, F., David, K. L., Destree, A., Duat-Rodriguez, A., Earl, D., Escobar, L., Eswara, M., Ezquieta, B., Frayling, I. M., Frydman, M., Gardner, K., Gripp, K. W., Hernández-Chico, C., Heyrman, K., Ibrahim, J., Janssens, S., Keena, B. A., Llano-Rivas, I., Leppig, K., Mcdonald, M., Misra, V. K., Mulbury, J., Narayanan, V., Orenstein, N., Galvin-Parton, P., Pedro, H., Pivnick, E. K., Powell, C. M., Randolph, L., Raskin, S., Rosell, J., Rubin, K., Seashore, M., Schaaf, C. P., Scheuerle, A., Schultz, M., Schorry, E., Schnur, R., Siqveland, E., Tkachuk, A., Tonsgard, J., Upadhyaya, M., Verma, I. C., Wallace, S., Williams, C., Zackai, E., Zonana, J. J., Lazaro, C., Claes, K., Korf, B., Martin, Y., Legius, E. & Messiaen, L., Nov 1 2015, In : Human Mutation. 36, 11, p. 1052-1063 12 p.

Research output: Contribution to journalArticle

Noonan Syndrome
Neurofibromatosis 1
Pulmonary Valve Stenosis
Genetic Association Studies
Missense Mutation
2014
8 Citations (Scopus)

Hypohidrotic ectodermal dysplasia, osteopetrosis, lymphedema, and immunodeficiency in an infant with multiple opportunistic infections

Carlberg, V. M., Lofgren, S. M., Mann, J. A., Austin, J., Nolt, D., Shereck, E., Davila-Saldana, B., Zonana, J. J. & Krol, A., Nov 1 2014, In : Pediatric Dermatology. 31, 6, p. 716-721 6 p.

Research output: Contribution to journalArticle

Anhidrotic Ectodermal Dysplasia 1
Osteopetrosis
Lymphedema
Opportunistic Infections
Essential Genes
19 Citations (Scopus)

Reciprocal deletion and duplication at 2q23.1 indicates a role for MBD5 in autism spectrum disorder

Mullegama, S. V., Rosenfeld, J. A., Orellana, C., Van Bon, B. W. M., Halbach, S., Repnikova, E. A., Brick, L., Li, C., Dupuis, L., Rosello, M., Aradhya, S., Stavropoulos, D. J., Manickam, K., Mitchell, E., Hodge, J. C., Talkowski, M. E., Gusella, J. F., Keller, K., Zonana, J. J., Schwartz, S. & 7 others, Pyatt, R. E., Waggoner, D. J., Shaffer, L. G., Lin, A. E., De Vries, B. B. A., Mendoza-Londono, R. & Elsea, S. H., Jan 2014, In : European Journal of Human Genetics. 22, 1, p. 57-63 7 p.

Research output: Contribution to journalArticle

Gene Dosage
Autistic Disorder
Intellectual Disability
Eyebrows
Phenotype
2012
5 Citations (Scopus)
Rhabdoid Tumor
DiGeorge Syndrome
Chromosome Deletion
Skin
Carcinogenesis
16 Citations (Scopus)

Dental abnormalities in Schimke immuno-osseous dysplasia.

Morimoto, M., Kérourédan, O., Gendronneau, M., Shuen, C., Baradaran-Heravi, A., Asakura, Y., Basiratnia, M., Bogdanovic, R., Bonneau, D., Buck, A., Charrow, J., Cochat, P., Dehaai, K. A., Fenkçi, M. S., Frange, P., Fründ, S., Fryssira, H., Keller, K., Kirmani, S., Kobelka, C. & 16 others, Kohler, K., Lewis, D. B., Massella, L., McLeod, D. R., Milford, D. V., Nobili, F., Olney, A. H., Semerci, C. N., Stajic, N., Stein, A., Taque, S., Zonana, J. J., Lücke, T., Hendson, G., Bonnaure-Mallet, M. & Boerkoel, C. F., Jul 2012, In : Journal of Dental Research. 91, 7 Suppl

Research output: Contribution to journalArticle

Tooth Abnormalities
Tooth
Anodontia
DNA Helicases
Mutation
22 Citations (Scopus)

Further clinical and molecular delineation of the 15q24 microdeletion syndrome

Mefford, H. C., Rosenfeld, J. A., Shur, N., Slavotinek, A. M., Cox, V. A., Hennekam, R. C., Firth, H. V., Willatt, L., Wheeler, P., Morrow, E. M., Cook, J., Sullivan, R., Oh, A., McDonald, M. T., Zonana, J. J., Keller, K., Hannibal, M. C., Ball, S., Kussmann, J., Gorski, J. & 10 others, Zelewski, S., Banks, V., Smith, W., Smith, R., Paull, L., Rosenbaum, K. N., Amor, D. J., Silva, J., Lamb, A. & Eichler, E. E., Feb 2012, In : Journal of Medical Genetics. 49, 2, p. 110-118 9 p.

Research output: Contribution to journalArticle

Genomic Segmental Duplications
Language Development Disorders
Phenotype
Speech Therapy
15q24 Microdeletion
37 Citations (Scopus)

Novel microcephalic primordial dwarfism disorder associated with variants in the centrosomal protein ninein

Dauber, A., Lafranchi, S., Maliga, Z., Lui, J. C., Moon, J. E., McDeed, C., Henke, K., Zonana, J. J., Kingman, G. A., Pers, T. H., Baron, J., Rosenfeld, R. R., Hirschhorn, J. N., Harris, M. P. & Hwa, V., Nov 2012, In : Journal of Clinical Endocrinology and Metabolism. 97, 11

Research output: Contribution to journalArticle

Dwarfism
Zebrafish
Genes
Skull
Fibroblasts
35 Citations (Scopus)

Penetrance of biallelic SMARCAL1 mutations is associated with environmental and genetic disturbances of gene expression

Baradaran-Heravi, A., Cho, K. S., Tolhuis, B., Sanyal, M., Morozova, O., Morimoto, M., Elizondo, L. I., Bridgewater, D., Lubieniecka, J., Beirnes, K., Myung, C., Leung, D., Fam, H. K., Choi, K., Huang, Y., Dionis, K. Y., Zonana, J. J., Keller, K., Stenzel, P., Mayfield, C. & 7 others, Lücke, T., Bokenkamp, A., Marra, M. A., Van Lohuizen, M., Lewis, D. B., Shaw, C. & Boerkoel, C. F., Jun 2012, In : Human Molecular Genetics. 21, 11, p. 2572-2587 16 p., dds083.

Research output: Contribution to journalArticle

Penetrance
Chromatin
Gene Expression
Mutation
DNA Helicases
18 Citations (Scopus)

Reduced elastogenesis: A clue to the arteriosclerosis and emphysematous changes in Schimke immuno-osseous dysplasia?

Morimoto, M., Yu, Z., Stenzel, P., Clewing, J. M., Najafian, B., Mayfield, C., Hendson, G., Weinkauf, J. G., Gormley, A. K., Parham, D. M., Ponniah, U., André, J. L., Asakura, Y., Basiratnia, M., Bogdanović, R., Bokenkamp, A., Bonneau, D., Buck, A., Charrow, J., Cochat, P. & 27 others, Cordeiro, I., Deschenes, G., Fenkçi, M. S., Frange, P., Fründ, S., Fryssira, H., Guillen-Navarro, E., Keller, K., Kirmani, S., Kobelka, C., Lamfers, P., Levtchenko, E., Lewis, D. B., Massella, L., McLeod, D. R., Milford, D. V., Nobili, F., Saraiva, J. M., Semerci, C. N., Shoemaker, L., Stajić, N., Stein, A., Taha, D., Wand, D., Zonana, J. J., Lücke, T. & Boerkoel, C. F., 2012, In : Orphanet Journal of Rare Diseases. 7, 1, 70.

Research output: Contribution to journalArticle

Arteriosclerosis
Elastin
Chromatin
Actins
Emphysema
2010
82 Citations (Scopus)

Clinical and genetic characterization of manifesting carriers of DMD mutations

Soltanzadeh, P., Friez, M. J., Dunn, D., von Niederhausern, A., Gurvich, O. L., Swoboda, K. J., Sampson, J. B., Pestronk, A., Connolly, A. M., Florence, J. M., Finkel, R. S., Bönnemann, C. G., Medne, L., Mendell, J. R., Mathews, K. D., Wong, B. L., Sussman, M. D., Zonana, J. J., Kovak, K., Gospe, S. M. & 5 others, Gappmaier, E., Taylor, L. E., Howard, M. T., Weiss, R. B. & Flanigan, K. M., Aug 2010, In : Neuromuscular Disorders. 20, 8, p. 499-504 6 p.

Research output: Contribution to journalArticle

Duchenne Muscular Dystrophy
Mutation
X Chromosome Inactivation
Phenotype
Muscle Cramp
2009
12 Citations (Scopus)

Classifying ectodermal dysplasias: Incorporating the molecular basis and pathways (workshop II)

Wright, J. T., Morris, C., Clements, S. E., D'Souza, R., Gaide, O., Mikkola, M. & Zonana, J. J., Sep 2009, In : American Journal of Medical Genetics, Part A. 149, 9, p. 2062-2067 6 p.

Research output: Contribution to journalArticle

Ectodermal Dysplasia
Names
Education
Family Health
Human Genome
44 Citations (Scopus)

Genotype-phenotype analysis of TCF4 mutations causing Pitt-Hopkins syndrome shows increased seizure activity with missense mutations

Rosenfeld, J. A., Leppig, K., Ballif, B. C., Thiese, H., Erdie-Lalena, C., Bawle, E., Sastry, S., Spence, J. E., Bandholz, A., Surti, U., Zonana, J. J., Keller, K., Meschino, W., Bejjani, B. A., Torchia, B. S. & Shaffer, L. G., Nov 2009, In : Genetics in Medicine. 11, 11, p. 797-805 9 p.

Research output: Contribution to journalArticle

Missense Mutation
Seizures
Genotype
Phenotype
Mutation
2002
165 Citations (Scopus)

Deficient natural killer cell cytotoxicity in patients with IKK-γ/NEMO mutations

Orange, J. S., Brodeur, S. R., Jain, A., Bonilla, F. A., Schneider, L. C., Kretschmer, R., Nurko, S., Rasmussen, W. L., Köhler, J. R., Gellis, S. E., Ferguson, B., Strominger, J. L., Zonana, J. J., Ramesh, N., Ballas, Z. K. & Geha, R. S., 2002, In : Journal of Clinical Investigation. 109, 11, p. 1501-1509 9 p.

Research output: Contribution to journalArticle

Natural Killer Cells
Mutation
Interleukin-2
Cytomegalovirus Infections
Blood Cells
2001
257 Citations (Scopus)

Gene defect in ectodermal dysplasia implicates a death domain adapter in development

Headon, D. J., Emmal, S. A., Ferguson, B., Tucker, A. S., Justice, M. J., Sharpe, P. T., Zonana, J. J. & Overbeek, P. A., Dec 20 2001, In : Nature. 414, 6866, p. 913-916 4 p.

Research output: Contribution to journalArticle

Ectodermal Dysplasia
Anhidrotic Ectodermal Dysplasia 1
Genes
Tumor Necrosis Factor Receptors
Edar Receptor
156 Citations (Scopus)

Mutations Leading to X-linked Hypohidrotic Ectodermal Dysplasia Affect Three Major Functional Domains in the Tumor Necrosis Factor Family Member Ectodysplasin-A

Schneider, P., Street, S. L., Gaide, O., Hertig, S., Tardivel, A., Tschopp, J., Runkel, L., Alevizopoulos, K., Ferguson, B. & Zonana, J. J., Jun 1 2001, In : Journal of Biological Chemistry. 276, 22, p. 18819-18827 9 p.

Research output: Contribution to journalArticle

Ectodysplasins
Anhidrotic Ectodermal Dysplasia 1
Tumor Necrosis Factor-alpha
Mutation
Furin
84 Citations (Scopus)

Mutations within a furin consensus sequence block proteolytic release of ectodysplasin-A and cause X-linked hypohidrotic ectodermal dysplasia

Chen, Y., Molloy, S. S., Thomas, L., Gambee, J., Bächinger, H. P., Ferguson, B., Zonana, J. J., Thomas, G. & Morris, N. P., Jun 19 2001, In : Proceedings of the National Academy of Sciences of the United States of America. 98, 13, p. 7218-7223 6 p.

Research output: Contribution to journalArticle

Ectodysplasins
Anhidrotic Ectodermal Dysplasia 1
Furin
Consensus Sequence
Mutation
2000
379 Citations (Scopus)

A novel X-linked disorder of immune deficiency and hypohidrotic ectodermal dysplasia is allelic to incontinentia pigmenti and due to mutations in IKK-gamma (NEMO)

Zonana, J. J., Elder, M. E., Schneider, L. C., Orlow, S. J., Moss, C., Golabi, M., Shapira, S. K., Farndon, P. A., Wara, D. W., Emmal, S. A. & Ferguson, B., 2000, In : American Journal of Human Genetics. 67, 6, p. 1555-1562 8 p.

Research output: Contribution to journalArticle

Anhidrotic Ectodermal Dysplasia 1
I-kappa B Kinase
Incontinentia Pigmenti
Immune System Diseases
Mutation
31 Citations (Scopus)

Clouston hidrotic ectodermal dysplasia (HED): Genetic homogeneity, presence of a founder effect in the French Canadian population and fine genetic mapping

Kibar, Z., Dubé, M. P., Powell, J., McCuaïg, C., Hayflick, S., Zonana, J. J., Hovnanian, A., Radhakrishna, U., Antonarakis, S. E., Benohanian, A., Sheeran, A. D., Stephan, M. L., Gosselin, R., Kelsell, D. P., Christianson, A. L., Clarke Fraser, F., Der Kaloustian, V. M. & Rouleau, G. A., May 2000, In : European Journal of Human Genetics. 8, 5, p. 372-380 9 p.

Research output: Contribution to journalArticle

Founder Effect
Ectodermal Dysplasia
Population Genetics
Haplotypes
Quebec
193 Citations (Scopus)

Mutations in GJB6 cause hidrotic ectodermal dysplasia

Lamartine, J., Essenfelder, G. M., Kibar, Z., Lanneluc, I., Callouet, E., Laoudj, D., Lemaître, G., Hand, C., Hayflick, S., Zonana, J. J., Antonarakis, S., Radhakrishna, U., Kelsell, D. P., Christianson, A. L., Pitaval, A., Der Kaloustian, V., Fraser, C., Blanchet-Bardon, C., Rouleau, G. A. & Waksman, G., Oct 1 2000, In : Nature Genetics. 26, 2, p. 142-144 3 p.

Research output: Contribution to journalArticle

Ectodermal Dysplasia
Mutation
1999
301 Citations (Scopus)

Mutations in the human homologue of mouse dl cause autosomal recessive and dominant hypohidrotic ectodermal dysplasia

Monreal, A. W., Ferguson, B., Headon, D. J., Street, S. L., Overbeek, P. A. & Zonana, J. J., Aug 1999, In : Nature Genetics. 22, 4, p. 366-369 4 p.

Research output: Contribution to journalArticle

Anhidrotic Ectodermal Dysplasia 3
Ectodermal Dysplasia, Hypohidrotic, Autosomal Recessive
Mutation
Anhidrotic Ectodermal Dysplasia 1
Eccrine Glands
1998
17 Citations (Scopus)

Confirmation of linkage of Clouston syndrome (hidrotic ectodermal dysplasia) to 13q11-q12.1 with Evidence for multiple independent mutations

Taylor, T. D., Hayflick, S., McKinnon, W., Guttmacher, A. E., Hovnanian, A., Litt, M. & Zonana, J. J., 1998, In : Journal of Investigative Dermatology. 111, 1, p. 83-85 3 p.

Research output: Contribution to journalArticle

Ectodermal Dysplasia
Nails
Chromosomes
Haplotypes
Mutation
161 Citations (Scopus)
Anhidrotic Ectodermal Dysplasia 1
Eccrine Glands
Ectodermal Dysplasia
Sweat Glands
Tooth
33 Citations (Scopus)

Scarcity of mutations detected in families with X linked hypohidrotic ectodermal dysplasia: Diagnostic implications

Ferguson, B., Thomas, N. S. T., Munoz, F., Morgan, D., Clarke, A. & Zonana, J. J., 1998, In : Journal of Medical Genetics. 35, 2, p. 112-115 4 p.

Research output: Contribution to journalArticle

Anhidrotic Ectodermal Dysplasia 1
Exons
Mutation
Single-Stranded Conformational Polymorphism
Eccrine Glands
1997
137 Citations (Scopus)

Cloning of Tabby, the murine homolog of the human EDA gene: Evidence for a membrane-associated protein with a short collagenous domain

Ferguson, B., Brockdorff, N., Formstone, E., Ngyuen, T., Kronmiller, J. E. & Zonana, J. J., Sep 1997, In : Human Molecular Genetics. 6, 9, p. 1589-1594 6 p.

Research output: Contribution to journalArticle

Anhidrotic Ectodermal Dysplasia 1
Organism Cloning
Membrane Proteins
Complementary DNA
Genes
56 Citations (Scopus)

Definitive evidence for an autosomal recessive form of hypohidrotic ectodermal dysplasia clinically indistinguishable from the more common X- linked disorder

Munoz, F., Lestringant, G., Sybert, V., Frydman, M., Alswaini, A., Frossard, P. M., Jorgenson, R. & Zonana, J. J., Jul 1997, In : American Journal of Human Genetics. 61, 1, p. 94-100 7 p.

Research output: Contribution to journalArticle

Ectodermal Dysplasia, Hypohidrotic, Autosomal Recessive
Ectodermal Dysplasia
Anhidrotic Ectodermal Dysplasia 1
Mutation
Eccrine Glands
1996
4 Citations (Scopus)

Clouston syndrome (hidrotic ectodermal dysplasia) is not linked to keratin gene clusters on chromosomes 12 and 17

Hayflick, S., Taylor, T., McKinnon, W., Guttmacher, A. E., Litt, M. & Zonana, J. J., 1996, In : Journal of Investigative Dermatology. 107, 1, p. 11-14 4 p.

Research output: Contribution to journalArticle

Ectodermal Dysplasia
Chromosomes, Human, Pair 12
Chromosomes, Human, Pair 17
Chromosomes
Multigene Family
533 Citations (Scopus)

X-linked anhidrotic (hypohidrotic) ectodermal dysplasia is caused by mutation in a novel transmembrane protein

Kere, J., Srivastava, A. K., Montonen, O., Zonana, J. J., Thomas, N., Ferguson, B., Munoz, F., Morgan, D., Clarke, A., Baybayan, P., Chen, E. Y., Ezer, S., Saarialho-Kere, U., De La Chapelle, A. & Schlessinger, D., Aug 1996, In : Nature Genetics. 13, 4, p. 409-416 8 p.

Research output: Contribution to journalArticle

Anhidrotic Ectodermal Dysplasia 1
Ectodermal Dysplasia
Sweat Glands
Mutation
Genes
1995
44 Citations (Scopus)

An atypical case of fragile X syndrome caused by a deletion that includes the FMR1 gene

Quan, F., Zonana, J. J., Gunter, K., Peterson, K. L., Magenis, R. E. & Popovich, B. W., May 1995, In : American Journal of Human Genetics. 56, 5, p. 1042-1051 10 p.

Research output: Contribution to journalArticle

Fragile X Syndrome
Genes
Chromosome Banding
Imperforate Anus
Cosmids
4 Citations (Scopus)

Craniofacial conodysplasia

Beals, R. K., Piatt, J. H. & Zonana, J. J., 1995, In : Journal of Pediatric Orthopaedics. 15, 5, p. 633-636 4 p.

Research output: Contribution to journalArticle

Spinal Cord Compression
Cerebral Palsy
Hydrocephalus
Foot
Early Diagnosis
1994
8 Citations (Scopus)

Detection of de novo mutations and analysis of their origin in families with X linked hypohidrotic ectodermal dysplasia

Zonana, J. J., Jones, M., Clarke, A., Gault, J., Muller, B. & Thomas, N. S. T., Apr 1994, In : Journal of Medical Genetics. 31, 4, p. 287-292 6 p.

Research output: Contribution to journalArticle

Anhidrotic Ectodermal Dysplasia 1
Mutation
Ectodermal Dysplasia
Oogenesis
Genetic Counseling
46 Citations (Scopus)

Velo-cardio-facial syndrome and DiGeorge sequence with meningomyelocele and deletions of the 22q11 region

Nickel, R., Pillers, D. A. M., Merkens, M., Magenis, R. E., Driscoll, D. A., Emanuel, B. S. & Zonana, J. J., 1994, In : American Journal of Medical Genetics. 52, 4, p. 445-449 5 p.

Research output: Contribution to journalArticle

DiGeorge Syndrome
Meningomyelocele
Congenital Heart Defects
Neural Tube Defects
Cleft Palate
1993
13 Citations (Scopus)

Characterisation of molecular DNA rearrangements within the Xq12-q13.1 region, in three patients with X-linked hypohidrotic ectodermal dysplasia (EDA)

Thomas, N. S. T., Chelly, J., Zonana, J. J., Davles, K. J. P., Morgan, S., Gault, J., Rack, K. A., Buckle, V. J., Brockdorff, N., Clarke, A. & Monaco, A., Oct 1993, In : Human Molecular Genetics. 2, 10, p. 1679-1685 7 p.

Research output: Contribution to journalArticle

Anhidrotic Ectodermal Dysplasia 1
Ectodermal Dysplasia
Gene Rearrangement
Rearrangement
Deletion
8 Citations (Scopus)

Congenital contractures, ectodermal dysplasia, cleft lip/palate, and developmental impairment: A distinct syndrome

Ladda, R. L., Zonana, J. J., Ramer, J. C., Mascari, M. J. & Rogan, P. K., 1993, In : American Journal of Medical Genetics. 47, 4, p. 550-555 6 p.

Research output: Contribution to journalArticle

Anhidrotic Ectodermal Dysplasia 1
Psychomotor Disorders
Prometaphase
Ectodermal Dysplasia
Skin Manifestations
29 Citations (Scopus)

Detection of a molecular deletion at the DXS732 locus in a patient with X-linked hypohidrotic ectodermal dysplasia (EDA), with the identification of a unique junctional fragment

Zonana, J. J., Gault, J., Davies, K. J. P., Jones, M., Browne, D., Litt, M., Brockdorff, N., Rastan, S., Clarke, A. & Thomas, N. S. T., Jan 1993, In : American Journal of Human Genetics. 52, 1, p. 78-84 7 p.

Research output: Contribution to journalArticle

Anhidrotic Ectodermal Dysplasia 1
Ectodermal Dysplasia
Cosmids
Chromosomes, Human, X
Genetic Loci
16 Citations (Scopus)

Hepatocellular carcinoma in arteriohepatic dysplasia

Keeffe, E. B., Pinson, C. W., Ragsdale, J. & Zonana, J. J., 1993, In : American Journal of Gastroenterology. 88, 9, p. 1446-1449 4 p.

Research output: Contribution to journalArticle

Alagille Syndrome
Preschool Children
Liver Neoplasms
Hepatocellular Carcinoma
29 Citations (Scopus)
Anhidrotic Ectodermal Dysplasia 1
Ectodermal Dysplasia
Genetic Research
Molecular Biology
Eccrine Glands
15 Citations (Scopus)

Searching for human epilepsy genes: A progress report

Leppert, M., McMahon, W. M., Quattlebaum, T. G., Bjerre, I., Zonana, J. J., Shevell, M. I., Andermann, E., Resales, T. O., Ronen, G. M., Connolly, M. & Anderson, V. E., 1993, In : Brain Pathology. 3, 4, p. 357-369 13 p.

Research output: Contribution to journalArticle

Epilepsy
Juvenile Myoclonic Epilepsy
Genes
Unverricht-Lundborg Syndrome
Benign Neonatal Epilepsy
5 Citations (Scopus)

Velo-cardio-facial and DiGeorge syndromes with meningomyelocele and deletions of the 22Q11 region

Nickel, R., Pillers, D. M., Merkens, M., Magenis, R. E., Driscoll, D. A., Emanuel, B. S. & Zonana, J. J., 1993, In : European Journal of Pediatric Surgery. 3, SUPPL. 1, p. 27-28 2 p.

Research output: Contribution to journalArticle

DiGeorge Syndrome
Chromosomes, Human, Pair 22
Meningomyelocele
Chromosome Deletion
Neural Tube Defects
1992
307 Citations (Scopus)

Deletions and microdeletions of 22q11.2 in velo-cardio-facial syndrome

Driscoll, D. A., Spinner, N. B., Budarf, M. L., McDonald-McGinn, D. M., Zackai, E. H., Goldberg, R. B., Shprintzen, R. J., Saal, H. M., Zonana, J. J., Jones, M. C., Mascarello, J. T. & Emanuel, B. S., 1992, In : American Journal of Medical Genetics. 44, 2, p. 261-268 8 p.

Research output: Contribution to journalArticle

DiGeorge Syndrome
Chromosomes
Hypocalcemia
Learning Disorders
Cleft Palate
11 Citations (Scopus)

Dinucleotide repeat polymorphism at the PGK1P1 locus

Browne, D. L., Zonana, J. J. & Litt, M., Mar 11 1992, In : Nucleic Acids Research. 20, 5, p. 1169 1 p.

Research output: Contribution to journalArticle

Molecular Sequence Data
Phosphoglycerate Kinase
Dinucleotide Repeats
Pseudogenes
Polymerase Chain Reaction
33 Citations (Scopus)

High-resolution mapping of the X-linked hypohidrotic ectodermal dysplasia (EDA) locus

Zonana, J. J., Jones, M., Browne, D., Litt, M., Kramer, P., Becker, H. W., Brockdorff, N., Rastan, S., Davies, K. P., Clarke, A. & Thomas, N. S. T., Nov 1992, In : American Journal of Human Genetics. 51, 5, p. 1036-1046 11 p.

Research output: Contribution to journalArticle

Anhidrotic Ectodermal Dysplasia 1
Ectodermal Dysplasia
Genetic Recombination
Hybrid Cells
3 Citations (Scopus)

Minimum qualifications for directors: DNA-based genetic-testing laboratories [10]

Murphy, P., Amos, J., Carpenter, N., Fenwick, R., Hodes, M. E., Kelly, T., Matteson, K., Seltzer, W., Spence, J. E., Thibodeau, S., Venne, V., Wilson, V. & Zonana, J. J., 1992, In : American Journal of Human Genetics. 51, 4, p. 910-912 3 p.

Research output: Contribution to journalArticle

1991
18 Citations (Scopus)

Dinucleotide repeat polymorphism at the DXYS1X locus

Browne, D. L., Zonana, J. J. & Litt, M., Apr 11 1991, In : Nucleic Acids Research. 19, 7, p. 1721 1 p.

Research output: Contribution to journalArticle

Molecular Sequence Data
Dinucleotide Repeats
Genetic Linkage
Polymerase Chain Reaction
Oligodeoxyribonucleotides
1990
135 Citations (Scopus)

Comparison of the 15q deletions in Prader-Willi and Angelman syndromes: Specific regions, extent of deletions, parental origin, and clinical consequences

Magenis, R. E., Toth-Fejel, S., Allen, L. J., Black, M., Brown, M. G., Budden, S., Cohen, R., Friedman, J. M., Kalousek, D., Zonana, J. J., Lacy, D., Lafranchi, S., Lahr, M., Macfarlane, J. & Williams, C. P. S., 1990, In : American Journal of Medical Genetics. 35, 3, p. 333-349 17 p.

Research output: Contribution to journalArticle

Angelman Syndrome
Prader-Willi Syndrome
Chromosomes, Human, Pair 15
Chromosome Deletion
Meiosis
61 Citations (Scopus)

Cosegregation of elastin-associated microfibrillar abnormalities with the Marfan phenotype in families

Godfrey, M., Menashe, V., Weleber, R., Koler, R. D., Bigley, R. H., Lovrien, E., Zonana, J. J. & Hollister, D. W., Apr 1990, In : American Journal of Human Genetics. 46, 4, p. 652-660 9 p.

Research output: Contribution to journalArticle

Marfan Syndrome
Elastin
Phenotype
Connective Tissue
Musculoskeletal Abnormalities
15 Citations (Scopus)

Prenatal diagnosis of X-linked hypohidrotic ectodermal dysplasia by linkage analysis

Zonana, J. J., Schinzel, A., Upadhyaya, M., Thomas, N. S. T., Anton-Lamprecht, I. & Harper, P. S., 1990, In : American Journal of Medical Genetics. 35, 1, p. 132-135 4 p.

Research output: Contribution to journalArticle

Anhidrotic Ectodermal Dysplasia 1
Prenatal Diagnosis
Skin
Fetus
Fetoscopy