L. Hudgins

发表

Hand and foot length in Prader-Willi syndrome.

S. Cassidy, L. Hudgins, Suzanne B. Cassidy, 1988, American journal of medical genetics.

Shprintzen-Goldberg syndrome: a clinical analysis.

R. Shprintzen, D. Milewicz, J. Carey, 1998, American journal of medical genetics.

Scanning for telomeric deletions and duplications and uniparental disomy using genetic markers in 120 children with malformations

A. Guttmacher, L. Biesecker, J. Graham, 2001, Human Genetics.

Carpenter Syndrome: Extended RAB23 Mutation Spectrum and Analysis of Nonsense-mediated mRNA Decay

J. Hurst, A. Wilkie, D. Jenkins, 2011, Human mutation.

Neonatal phenotype in Kabuki syndrome

E. Roeder, L. Bird, Marilyn C. Jones, 2005, American journal of medical genetics. Part A.

Perinatal distress in 1p36 deletion syndrome can mimic hypoxic ischemic encephalopathy

Stephanie E. Vallee, E. Zackai, A. Battaglia, 2019, American journal of medical genetics. Part A.

Transmission of the dysgnathia complex from mother to daughter.

M. Cunningham, M. Erlich, L. Hudgins, 2000, American journal of medical genetics.

Isolated persistent hypermethioninemia.

H. Levy, A. Tangerman, S. Mudd, 1995, American journal of human genetics.

Phenotypic differences in African Americans with Prader-Willi syndrome

S. Cassidy, J. Geer, L. Hudgins, 1998, Genetics in Medicine.

Kabuki syndrome: a review

L. Hudgins, M. Adam, L. Hudgins, 2004, Clinical genetics.

Phenotypic spectrum and management issues in Kabuki syndrome.

R. Pagon, M. Hannibal, H. Kawame, 1999, The Journal of pediatrics.

Molecular mapping of the Edwards syndrome phenotype to two noncontiguous regions on chromosome 18.

E. Zackai, J. Carey, R. Mewar, 1994, American journal of human genetics.

Expanding the phenotype of cardiovascular malformations in Adams–Oliver syndrome

T. Tacy, A. Lowenthal, E. Esplin, 2013, American journal of medical genetics. Part A.

Characterization of the split hand/split foot malformation locus SHFM1 at 7q21.3-q22.1 and analysis of a candidate gene for its expression during limb development.

S. Scherer, L. Tsui, J. Rommens, 1996, Human molecular genetics.

Expansile bone lesions in a three-generation family.

C. B. Graham, L. Hudgins, M. Dinulos, 1999, American journal of medical genetics.

Jarcho-Levin syndrome: unusual survival in a classical case.

R. Greenstein, S. Cassidy, L. Hudgins, 1994, American journal of medical genetics.

Linkage analysis in Marfan syndrome.

S. Blanton, M. Sarfarazi, P. Tsipouras, 1990, Journal of medical genetics.

Detection of chromosomal aberrations by a whole-genome microsatellite screen.

L. Biesecker, Y. Ning, R. Pauli, 2000, American journal of human genetics.

Nine patients with Xp22.31 microduplication, cognitive deficits, seizures, and talipes anomalies

A. Battaglia, C. Curry, A. Slavotinek, 2014, American journal of medical genetics. Part A.

Expansion of the TARP syndrome phenotype associated with de novo mutations and mosaicism

E. Zackai, L. Biesecker, J. Johnston, 2014, American journal of medical genetics. Part A.

A "balanced" Y;16 translocation associated with Turner-like neonatal lymphedema suggests the location of a potential anti-Turner gene on the Y chromosome.

T. Glover, R. Erickson, J. Stone, 1995, Cytogenetics and cell genetics.

Genitopatellar syndrome: Expanding the phenotype and excluding mutations in LMX1B and TBX4

G. Enns, O. Abdul-Rahman, S. Schlaubitz, 2006, American journal of medical genetics. Part A.

Early cirrhosis in survivors with Jeune thoracic dystrophy.

J. Hyams, W. Treem, L. Hudgins, 1992, The Journal of pediatrics.

Karyotype/phenotype correlations in duplication 4q: Evidence for a critical region within 4q27‐28 for preaxial defects

A. Battaglia, C. Disteche, J. Carey, 2005, American Journal of Medical Genetics. Part A.

J. Rosenfeld, I. Krantz, M. Bainbridge, 2019, Genetics in Medicine.

Linkage analysis inMarfansyndrome

S. Blanton, P. Tsipouras, L. Hudgins, 2011 .

Shprintzen-Goldberg syndrome: a clinical analysis.

R. Shprintzen, D. Milewicz, J. Hanson, 1998, American journal of medical genetics.

Developmental outcome in Kabuki syndrome

K. Vaux, S. Schelley, L. Hudgins, 2005, American journal of medical genetics. Part A.