H. Bass

发表

Hand-Foot Syndrome and Streptococcal Sepsis

H. Bass, S. Sumida, 1974 .

Oligoarray (105K) CGH Analysis of Chromosome Microdeletions within 10q22.1q24.32

R. Mardach, K. S. Reddy, H. Bass, 2010, Cytogenetic and Genome Research.

Churg-Strauss Syndrome in a 14-Year-Old Boy Diagnosed by Transbronchial Lung Biopsy

J. Herskowitz, H. Bass, P. Treitman, 1991, Clinical pediatrics.

London Dysmorphology Database, London Neurogenetics Database & Dysmorphology Photo Library on CD-ROM

H. Bass, 2002 .

Perinatal Screening for Congenital Malformations and Genetic Disorders: Current Status and Future Directions.

H. Bass, Jamie Taylor, 2002, The Permanente journal.

Association of generalized dystrophic epidermolysis bullosa with positive acetylcholinesterase and markedly elevated maternal serum and amniotic fluid alpha‐fetoprotein

B. Crandall, H. Bass, Cheryl Miranda, 1993, Prenatal diagnosis.

Education and testing strategy for large-scale cystic fibrosis carrier screening

R. Cantor, W. Grody, B. Crandall, 1994, Journal of Genetic Counseling.

Miller-Dieker Syndrome: Detection of a Cryptic Chromosome Translocation Using In Situ Hybridization in a Family With Multiple Affected Offspring

P. Jacob, H. Bass, M. Jamehdor, 1993 .

Nephrolithiasis in childhood.

H. Bass, B. Emanuel, 1966, The Journal of urology.

Nephrolithiasis In Childhood

H. Bass, B. Emanuel, 1966, Clinical pediatrics.

A 45,XX,-5,-14,+t(5q;14q)mat cri du chat child.

B. Crandall, R. Sparkes, H. Bass, 1978, Annales de genetique.

Application of oligonucleotide array CGH to the simultaneous detection of a deletion in the nuclear TK2 gene and mtDNA depletion.

L. Wong, A. Pursley, E. Schmitt, 2010, Molecular genetics and metabolism.

A family with three independent autosomal translocations associated with 7q32----7qter syndrome.

R. Sparkes, M. Fox, J. Bernar, 1985, Journal of medical genetics.

Two balanced translocations in three generations of a pedigree: t(7;10) (q11;q22) and t(14;21) (14qter to cen to 21qter)1.

R. Sparkes, H. Bass, 1979, Journal of medical genetics.

PCR-based screening for cystic fibrosis carrier mutations in an ethnically diverse pregnant population.

R. Cantor, W. Grody, B. Crandall, 1997, American journal of human genetics.

Neonatal Asymmetric Crying Facies: A New Look at an Old Problem

S. Sapin, H. Bass, Alvin A. Miller, 2005, Clinical pediatrics.

Persistently elevated AFP and AChE in amniotic fluid from a normal fetus following demise of its twin

H. Bass, R. Petrucha, J. E. S. Lee, 1986, Prenatal Diagnosis.

47,XX,+der(18),t(9;18)(p24;q21) mat: a distinct partial trisomy 18q--syndrome?

R. Sparkes, H. Bass, F. WEBER-PARISI, 1978, Journal of medical genetics.

A systematic analysis of small supernumerary marker chromosomes using array CGH exposes unexpected complexity

S. Aradhya, K. Reddy, J. Meck, 2012, Genetics in Medicine.

The trisomy 8 syndrome: two additional mosaic cases

B. Crandall, S. M. Marcy, M. Glovsky, 1974, Journal of medical genetics.

Two different chromosome abnormalities resulting from a translocation carrier father.

B. Crandall, S. M. Marcy, H. Bass, 1973, Jornal de Pediatria.

Gallbladder Disease in Childhood

H. Bass, 1970 .

Probable trisomy 22 identified by fluorescent and trypsin-giemsa banding.

B. Crandall, R. Sparkes, H. Bass, 1973, Annales de genetique.

10q(q23 leads to qter) duplication: GOTs, HK1, and other gene markers.

R. Sparkes, H. Bass, M. Sparkes, 1978, Human genetics.

Spontaneous pneumothorax in association with pyridoxine-responsive homocystinuria

S. Cederbaum, R. Mardach, D. Lagrave, 1997, Journal of Inherited Metabolic Disease.

Familial absence of middle phalanges with nail dysplasia: a new syndrome.

H. Bass, 1968, Pediatrics.

Mumps Orchitis in a Three-Year-Old Child

H. Bass, J. Atkinson, 1968 .

Genetic counseling gone awry: miscommunication between prenatal genetic service providers and Mexican-origin clients.

A. Walker, H. Bass, C. Browner, 2003, Social science & medicine.

10q(q23→qter) duplication: GOTs, HK1, and other gene markers

R. Sparkes, H. Bass, M. Sparkes, 1978, Human Genetics.

Case reports well be that , in this family , 18 q-is unable to segregate properly during gametogenesis and early post-zygotic mitosis , leading to an unbalanced state and + ( 18 q-)

R. Sparkes, H. Bass, F. WEBER-PARISI, 2022 .

A pseudo-full mutation identified in fragile X assay reveals a novel base change abolishing an EcoRI restriction site.

Hanlin Gao, C. Astbury, H. Bass, 2008, Journal of Molecular Diagnostics.

Features of trisomy 18 and 18p‐syndromes in an infant with 46, XY, i(18q)

H. Bass, Robert S. Sparkes, Alvin A. Miller, 1979, Clinical genetics.

Trisomy 18 mosaicism: Clues to the diagnosis

B. Crandall, M. Fox, H. Bass, 1982, Clinical Genetics.

Osteopathia Striata Syndrome

B. Crandall, R. Sparkes, H. Bass, 1980, Clinical pediatrics.

Partial trisomy of chromosome number 15 identified by trypsin-Giemsa banding.

B. Crandall, H. Bass, H. Muller, 1973, American journal of mental deficiency.

Michelin tire baby syndrome: familial constriction bands during infancy and early childhood in four generations.

B. Brooks, H. Bass, S. Caldwell, 1993, American journal of medical genetics.

Cystic fibrosis presenting with anemia and hypoproteinemia in identical twins.

H. Bass, A. A. Miller, 1977, Pediatrics.

Congenital contractural arachnodactyly, keratoconus, and probable Marfan syndrome in the same pedigree.

B. Crandall, R. Sparkes, H. Bass, 1981, The Journal of pediatrics.

mat: a distinct partial trisomy

R. Sparkes, H. Bass, And FELICE WEBER-PARISI, 2022 .

mat: a distinct partial trisomy

H. Bass, Robert S. Sparkes, And FELICE WEBER-PARISI, 2022 .

Attitudes toward genetic carrier screening for cystic fibrosis among pregnant women: the role of health beliefs and avoidant coping style.

W. Grody, B. Crandall, H. Bass, 1997, Women's Health.