E. Wulfsberg

发表

Familial DiGeorge/velocardiofacial syndrome with deletions of chromosome area 22q11.2: report of five families with a review of the literature.

J. Leana-Cox, S. Pangkanon, K. Eanet, 1996, American journal of medical genetics.

What's in a name? Chromosome 22q abnormalities and the DiGeorge, velocardiofacial, and conotruncal anomalies face syndromes.

G. Neri, J. Leana-Cox, E. Wulfsberg, 1996, American journal of medical genetics.

Familial testicular germ cell tumor: no associated syndromic pattern identified

P. Rosenberg, M. Greene, G. Bratslavsky, 2014, Hereditary cancer in clinical practice.

Policy Statement: American college of medical genetics. Fragile X Syndrome: Diagnostic and carrier testing

V. Park, S. Sherman, Annette K. Taylor, 1994 .

Testing Children for Genetic Predispositions: Is it in Their Best Interest?

D. Hoffmann, E. Wulfsberg, Eric A. Wulfsberg, 1995, Journal of Law, Medicine & Ethics.

Molecular characterization of a unique patient with epimerase-deficiency galactosaemia

S. Almashanu, T. Cowan, M. Blitzer, 1998, Journal of Inherited Metabolic Disease.

Alpha 1-antitrypsin deficiency. Impact of genetic discovery on medicine and society.

D. Hoffmann, E. Wulfsberg, M. Cohen, 1994, JAMA.

Duchenne Muscular Dystrophy in a 46 XY Female

E. Wulfsberg, R. Skoglund, 1986, Clinical pediatrics.

Vertebral hypersegmentation in a case of the VATER association.

E. Wulfsberg, T. L. Phillips-Dawkins, R. L. Thomas, 1992, American journal of medical genetics.

Phenotypic variability of del(2) (q22-q23): report of a case with a review of the literature.

I. Lurie, E. Wulfsberg, L. Rosenblum-Vos, 1994, Genetic counseling.

Reply to “What's in a name? The 22q11.2 deletion”

G. Neri, J. Leana-Cox, E. Wulfsberg, 1997 .

Testing for interaction between maternal smoking and TGFA genotype among oral cleft cases born in Maryland 1992-1996.

T. Beaty, C. Tifft, J. Hetmanski, 1997, The Cleft palate-craniofacial journal : official publication of the American Cleft Palate-Craniofacial Association.

Monozygotic twin girls with diploid/triploid chromosome mosaicism and cutaneous pigmentary dysplasia

E. Wulfsberg, William C. Wassel, Cynthia A. Polo, 1991, Clinical genetics.

Characterization of de novo duplications in eight patients by using fluorescence in situ hybridization with chromosome-specific DNA libraries.

S. Schwartz, L. Raffel, B. Sullivan, 1993, American journal of human genetics.

Antenatal diagnosis of lethal skeletal dysplasias.

R. C. Saunders, J. Dungan, K. Grumbach, 1998, American journal of medical genetics.

OEIS complex (omphalocele-exstrophy-imperforate anus-spinal defects) in monozygotic twins.

D. Lee, D H Lee, J R Cottrell, 1999, American journal of medical genetics.

Rokitansky sequence in association with the facio-auriculo-vertebral sequence: part of a mesodermal malformation spectrum?

E. Wulfsberg, T. M. Grigbsy, 1990, American journal of medical genetics.

Complex chromosomal rearrangements: some breakpoints may have cellular adaptive significance

I. Lurie, E. Wulfsberg, M. Cohen, 1994, Clinical Genetics.

A complex chromosome rearrangement in a boy with autism.

J. Lopreiato, E. Wulfsberg, 1992, Journal of developmental and behavioral pediatrics : JDBP.

Chromosome 10qter deletion syndrome: a review and report of three new cases.

K. Jones, C. Cunniff, M. Jones, 1989, American journal of medical genetics.

"Holoprosencephaly-polydactyly" (pseudotrisomy 13) syndrome: expansion of the phenotypic spectrum.

I. Lurie, E. Wulfsberg, I. W. Lurie, 1993, American journal of medical genetics.

High resolution chromosome banding in the Rubinstein—Taybi syndrome

R. Sparkes, I. Klisak, E. Wulfsberg, 1983, Clinical genetics.

Chondrodysplasia punctata: a boy with X-linked recessive chondrodysplasia punctata due to an inherited X-Y translocation with a current classification of these disorders.

E. Wulfsberg, J. Curtis, C. Jayne, 1992, American journal of medical genetics.

Third Prader‐Willi syndrome phenotype due to maternal uniparental disomy 15 with mosaic trisomy 15

J. Stamberg, E. Wulfsberg, E. Olander, 2000 .

The inheritance of conotruncal malformations: a review and report of two siblings with tetralogy of Fallot with pulmonary atresia

J. Moore, E. Wulfsberg, Eric J. Zintz, 1991, Clinical genetics.

A case-control study of nonsyndromic oral clefts in Maryland.

T. Beaty, J. Hetmanski, Y. Chiu, 2001, Annals of epidemiology.

Is the autosomal dominant Optiz GBBB syndrome part of the DiGeorge/velocardiofacial syndrome with deletions of chromosome area 22q11.2?

E. Wulfsberg, 1996, American journal of medical genetics.

Trisomy 18 phenotype in a patient with an isopseudodicentric 18 chromosome.

R. Sparkes, I. Klisak, E. Wulfsberg, 1984, Journal of medical genetics.

On the nosology of the "Schinzel-phocomelia" and "Al-Awadi/Raas-Rothschield" syndromes.

I. Lurie, E. Wulfsberg, 1993, American journal of medical genetics.

Autosomal dominant tetramelic postaxial oligodactyly.

E. Wulfsberg, S. Meister, L. Mirkinson, 1993, American journal of medical genetics.

No evidence of linkage for cleft lip with or without cleft palate to a marker near the transforming growth factor alpha locus in two populations.

T. Beaty, D. Wyszynski, N. Maestri, 1997, Human heredity.

Human PRRX1 and PRRX2 genes: cloning, expression, genomic localization, and exclusion as disease genes for Nager syndrome

Jack C. Yu, E. Jabs, R. Norris, 2000, Mammalian Genome.

Evidence for an association between markers on chromosome 19q and non-syndromic cleft lip with or without cleft palate in two groups of multiplex families

T. Beaty, D. Wyszynski, N. Maestri, 1996, Human Genetics.

TCOF1 mutations excluded from a role in other first and second branchial arch-related disorders.

E. Jabs, M. Passos-Bueno, L. Van Maldergem, 2002, American journal of medical genetics.

Acrofacial dysostosis with ambiguous genitalia.

T. Wiswell, R. Puntel, E. Wulfsberg, 1990, American journal of medical genetics.

Normal superoxide dismutase-1 (SOD-1) activity with deletion of chromosome band 21q21 supports localization of SOD-1 locus to 21q22

T. O'brien, R. Sparkes, J. Sykes, 2004, Human Genetics.

Gorlin syndrome (naevoid basal cell carcinoma syndrome): Prenatal detection in a fetus with macrocephaly and ventriculomegaly

L. Raffel, L. B. Roochvarg, E. Wulfsberg, 1994, Prenatal diagnosis.

A 15 → 1 translocation in a patient mosaic for presence or absence of an isodic(15p)(q11)

J. Opitz, R. Sparkes, I. Klisak, 1982 .

Speech characteristics in the Kabuki syndrome

E. Wulfsberg, P. Landis, Sheila Upton, 2003, American journal of medical genetics. Part A.