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- Laura J Russell, David D. Weaver, Marilyn J. Bull
- Pediatrics
- 1981
Features of both the Goldenhar and the caudal regression syndromes were found in the patient described. A search of the literature revealed two other patients having both conditions. However, a… (More)
- Patricia G. Wheeler, David D. Weaver
- American journal of medical genetics
- 2001
We have identified 25 cases with what we are calling the partial urorectal septum malformation (URSM) sequence, which were seen in our institution over the past 27 years. The partial URSM sequence is… (More)
- Jan Nico Bouwes Bavinck, David D. Weaver
- American journal of medical genetics
- 1986
A hypothesis is presented to explain the pathogenesis of the Poland, Klippel-Feil, and Möbius anomalies, isolated absence of the pectoralis major with breast hypoplasia, isolated terminal transverse… (More)
- Luiz Fernando Escobar, David D. Weaver, David Bixler, Marion E Hodes, Milicent Mitchell
- American journal of diseases of children
- 1987
We encountered six female infants with a specific pattern of developmental abnormalities of the urogenital and lower intestinal tracts. The anomalies included ambiguous genitalia, lack of perineal… (More)
- William Thomas Gibson, Rebecca L. Hood, +12 authors Steven J. Jones
- American journal of human genetics
- 2012
We used trio-based whole-exome sequencing to analyze two families affected by Weaver syndrome, including one of the original families reported in 1974. Filtering of rare variants in the affected… (More)
- Patricia G. Wheeler, David D. Weaver
- American journal of medical genetics. Part A
- 2005
VATER "association" is a common condition, with the diagnosis typically based on a characteristic constellation of congenital anomalies. Reported long-term follow-up information on VATER association… (More)
- Mark J. Pettenati, Jonathan L. Haines, Rodney R. Higgins, Rebecca S. Wappner, Catherine G. Palmer, David D. Weaver
- Human Genetics
- 1986
The main features of Wiedemann-Beckwith syndrome (WBS) include macroglossia, abdominal wall defects, visceromegaly, gigantism, hypoglycemia, ear creases, nevus flammeus, and mid-face hypoplasia.… (More)
- Megan E. Tucker, Holly J. Garringer, David D. Weaver
- American journal of medical genetics. Part A
- 2007
Mosaic trisomy 18 occurs when two different cell lines exist in the same individual; one cell line has two copies of chromosome 18, while the other has three copies. Here we present two new patients… (More)
- David D. Weaver, C L Mapstone, Pearl L. Yu
- American journal of diseases of children
- 1986
Evaluation of 46 patients with the VATER association indicates that in addition to the major defects seen in this association, numerous other abnormalities occur at lesser frequency. Four of the… (More)
- Christopher B. Griffith, Gail H. Vance, David D. Weaver
- American journal of medical genetics. Part A
- 2009
Trisomy 13 mosaicism occurs when two cell lines, one with a normal complement of chromosomes and the other with an additional chromosome 13, are present in the same individual. We present two… (More)